H3BUZ3 · H3BUZ3_HUMAN
- ProteinCalpain 3
- GeneCAPN3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids157 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs762472642 | 3 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.771) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408348G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408348G>A Locations: - p.Gly3Arg (Ensembl:ENST00000565559) - c.7G>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs762472642 | 3 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408348G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408348G>T Locations: - p.Gly3Trp (Ensembl:ENST00000565559) - c.7G>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs2289293 | 5 | A>T | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408354G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408354G>A Locations: - p.Ala5Thr (Ensembl:ENST00000565559) - c.13G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054088931 | 5 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408355C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408355C>T Locations: - p.Ala5Val (Ensembl:ENST00000565559) - c.14C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054088995 | 6 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408357A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408357A>C Locations: - p.Ser6Arg (Ensembl:ENST00000565559) - c.16A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs770176662 | 7 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408361C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408361C>A Locations: - p.Thr7Lys (Ensembl:ENST00000565559) - c.20C>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs770176662 | 7 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408361C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408361C>T Locations: - p.Thr7Met (Ensembl:ENST00000565559) - c.20C>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs770176662 | 7 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408361C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408361C>G Locations: - p.Thr7Arg (Ensembl:ENST00000565559) - c.20C>G (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs1566983940 | 9 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408368G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408368G>C Locations: - p.Gln9His (Ensembl:ENST00000565559) - c.27G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs753304461 | 10 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408370G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408370G>A Locations: - p.Gly10Glu (Ensembl:ENST00000565559) - c.29G>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs756657163 | 11 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408372C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408372C>T Locations: - p.Leu11Phe (Ensembl:ENST00000565559) - c.31C>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs2054089746 | 11 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408373T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408373T>G Locations: - p.Leu11Arg (Ensembl:ENST00000565559) - c.32T>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1405778933 | 12 | P>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408376C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408376C>G Locations: - p.Pro12Arg (Ensembl:ENST00000565559) - c.35C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs753877309 | 12 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408375C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408375C>T Locations: - p.Pro12Ser (Ensembl:ENST00000565559) - c.34C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054090517 | 13 | M>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408379T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408379T>A Locations: - p.Met13Lys (Ensembl:ENST00000565559) - c.38T>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1468603926 | 13 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.42408378A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408378A>C Locations: - p.Met13Leu (Ensembl:ENST00000565559) - c.37A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1468603926 | 13 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.42408378A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408378A>G Locations: - p.Met13Val (Ensembl:ENST00000565559) - c.37A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs757296760 | 14 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408381C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408381C>T Locations: - p.Arg14Cys (Ensembl:ENST00000565559) - c.40C>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs557801318 | 14 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.42408382G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408382G>A Locations: - p.Arg14His (Ensembl:ENST00000565559) - c.41G>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs557801318 | 14 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.42408382G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408382G>T Locations: - p.Arg14Leu (Ensembl:ENST00000565559) - c.41G>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs2141217077 | 16 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000015.10:g.42408388G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408388G>A Locations: - p.Gly16Glu (Ensembl:ENST00000565559) - c.47G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs746092526 | 17 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408390T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408390T>C Locations: - p.Tyr17His (Ensembl:ENST00000565559) - c.49T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs768490574 | 19 | G>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408396G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408396G>T Locations: - p.Gly19Trp (Ensembl:ENST00000565559) - c.55G>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs780936898 | 20 | A>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.36) Somatic: No Accession: NC_000015.10:g.42408399G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408399G>C Locations: - p.Ala20Pro (Ensembl:ENST00000565559) - c.58G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs780936898 | 20 | A>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.42408399G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408399G>A Locations: - p.Ala20Thr (Ensembl:ENST00000565559) - c.58G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054091447 | 21 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000015.10:g.42408403G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408403G>C Locations: - p.Gly21Ala (Ensembl:ENST00000565559) - c.62G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1595844566 | 22 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42408406G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408406G>T Locations: - p.Gly22Val (Ensembl:ENST00000565559) - c.65G>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs747902231 | 24 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000015.10:g.42408411C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408411C>T Locations: - p.Pro24Ser (Ensembl:ENST00000565559) - c.70C>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs2054091940 | 25 | G>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42408414G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408414G>T Locations: - p.Gly25Ter (Ensembl:ENST00000565559) - c.73G>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs769742122 | 26 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.42408417G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408417G>T Locations: - p.Val26Phe (Ensembl:ENST00000565559) - c.76G>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs1002376674 | 30 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.42408429C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42408429C>T Locations: - p.His30Tyr (Ensembl:ENST00000565559) - c.88C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs931966108 | 33 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.2) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409304C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409304C>T Locations: - p.Pro33Leu (Ensembl:ENST00000565559) - c.98C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001978930 rs758654496 | 33 | P>T | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42409303C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409303C>A Locations: - p.Pro33Thr (Ensembl:ENST00000565559) - c.97C>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
RCV001062393 rs2054128388 | 35 | P>L | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.347) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.42409310C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409310C>T Locations: - p.Pro35Leu (Ensembl:ENST00000565559) - c.104C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs142391359 | 37 | S>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.142) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000015.10:g.42409316G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409316G>T Locations: - p.Ser37Ile (Ensembl:ENST00000565559) - c.110G>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs142391359 | 37 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: tolerated - low confidence (1) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000015.10:g.42409316G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409316G>A Locations: - p.S37N (NCI-TCGA:ENST00000565559) - p.Ser37Asn (Ensembl:ENST00000565559) - c.110G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054128501 | 37 | S>R | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409315A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409315A>C Locations: - p.Ser37Arg (Ensembl:ENST00000565559) - c.109A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs758295014 | 39 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.42409321G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409321G>C Locations: - p.Asp39His (Ensembl:ENST00000565559) - c.115G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
COSV99782865 rs2054129122 | 40 | Q>* | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42409324C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409324C>T Locations: - p.Gln40Ter (Ensembl:ENST00000565559) - c.118C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA347555 RCV000201136 RCV001814108 RCV003474973 rs863224960 | 41 | E>* | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000015.10:g.42409327G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409327G>T Locations: - p.Glu41Ter (Ensembl:ENST00000565559) - c.121G>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
COSV55515147 rs863224960 | 41 | E>K | Pathogenic (Ensembl) | cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000015.10:g.42409327G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409327G>A Locations: - p.Glu41Lys (Ensembl:ENST00000565559) - c.121G>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
COSV105054862 rs747945886 | 43 | E>K | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000015.10:g.42409333G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409333G>A Locations: - p.Glu43Lys (Ensembl:ENST00000565559) - c.127G>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
RCV000672598 RCV001784274 rs777636094 | 44 | E>* | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42409336G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409336G>T Locations: - p.Glu44Ter (Ensembl:ENST00000565559) - c.130G>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
COSV55518748 rs777636094 | 44 | E>K | Likely pathogenic (Ensembl) | cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000015.10:g.42409336G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409336G>A Locations: - p.Glu44Lys (Ensembl:ENST00000565559) - c.130G>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs1314405681 | 45 | Q>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000015.10:g.42409339C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409339C>G Locations: - p.Gln45Glu (Ensembl:ENST00000565559) - c.133C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1358304887 | 45 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409341G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409341G>T Locations: - p.Gln45His (Ensembl:ENST00000565559) - c.135G>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV000809901 rs1314405681 | 45 | Q>K | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000015.10:g.42409339C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409339C>A Locations: - p.Gln45Lys (Ensembl:ENST00000565559) - c.133C>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
rs1277684622 | 45 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409340A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409340A>G Locations: - p.Gln45Arg (Ensembl:ENST00000565559) - c.134A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA10604879 RCV000344986 rs886042927 | 47 | Q>* | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42409345C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409345C>T Locations: - p.Gln47Ter (Ensembl:ENST00000565559) - c.139C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1049698745 | 49 | R>P | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409352G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409352G>C Locations: - p.Arg49Pro (Ensembl:ENST00000565559) - c.146G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV000807956 rs1049698745 | 49 | R>Q | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated - low confidence (0.09) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000015.10:g.42409352G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409352G>A Locations: - p.Arg49Gln (Ensembl:ENST00000565559) - c.146G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
COSV55521490 rs773879476 | 49 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: tolerated - low confidence (0.08) Somatic: Yes Accession: NC_000015.10:g.42409351C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409351C>T Locations: - p.Arg49Trp (Ensembl:ENST00000565559) - c.145C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054130965 | 50 | N>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.42409354A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409354A>G Locations: - p.Asn50Asp (Ensembl:ENST00000565559) - c.148A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1437608593 | 50 | N>K | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409356C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409356C>A Locations: - p.Asn50Lys (Ensembl:ENST00000565559) - c.150C>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001385225 rs2141219910 | 53-54 | KQ>N* | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42409365_42409366delinsCT Codon: AAGCAG/AACTAG Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409365_42409366delinsCT Locations: - p.Lys53_Gln54delinsAsnTer (Ensembl:ENST00000565559) - c.159_160delinsCT (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs1391365292 | 54 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.42409366C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409366C>G Locations: - p.Gln54Glu (Ensembl:ENST00000565559) - c.160C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV000674363 rs1555422962 | 54 | Q>R | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409367A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409367A>G Locations: - p.Gln54Arg (Ensembl:ENST00000565559) - c.161A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
RCV002016652 rs2141219945 | 55 | I>K | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409370T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409370T>A Locations: - p.Ile55Lys (Ensembl:ENST00000565559) - c.164T>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
RCV001953067 rs187054121 | 56 | A>P | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.711) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000015.10:g.42409372G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409372G>C Locations: - p.Ala56Pro (Ensembl:ENST00000565559) - c.166G>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
CA7511628 RCV000536114 RCV000596889 RCV002491062 RCV003488681 rs187054121 | 56 | A>S | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000015.10:g.42409372G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409372G>T Locations: - p.Ala56Ser (Ensembl:ENST00000565559) - c.166G>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
rs1566984486 | 56 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409373C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409373C>T Locations: - p.Ala56Val (Ensembl:ENST00000565559) - c.167C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054132063 | 57 | G>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.613) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409376G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409376G>A Locations: - p.Gly57Glu (Ensembl:ENST00000565559) - c.170G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054132277 | 58 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409379A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409379A>C Locations: - p.Asp58Ala (Ensembl:ENST00000565559) - c.173A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs563893708 | 58 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409378G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409378G>C Locations: - p.Asp58His (Ensembl:ENST00000565559) - c.172G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1595846015 | 59 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.42409789C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409789C>G Locations: - p.Asp59Glu (Ensembl:ENST00000565559) - c.177C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1566984723 | 59 | D>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409787G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409787G>T Locations: - p.Asp59Tyr (Ensembl:ENST00000565559) - c.175G>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs766430864 | 60 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409790A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409790A>C Locations: - p.Met60Leu (Ensembl:ENST00000565559) - c.178A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1261674189 | 60 | M>T | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409791T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409791T>C Locations: - p.Met60Thr (Ensembl:ENST00000565559) - c.179T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001384539 rs2141221307 | 61 | E>* | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42409793G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409793G>T Locations: - p.Glu61Ter (Ensembl:ENST00000565559) - c.181G>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
RCV000672316 rs1555423015 | 63 | C>* | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42409801T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409801T>A Locations: - p.Cys63Ter (Ensembl:ENST00000565559) - c.189T>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs2054148514 | 63 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409800G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409800G>A Locations: - p.Cys63Tyr (Ensembl:ENST00000565559) - c.188G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054148651 | 64 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409802G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409802G>A Locations: - p.Ala64Thr (Ensembl:ENST00000565559) - c.190G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
COSV55514400 rs1466584885 | 65 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000015.10:g.42409805G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409805G>A Locations: - p.D65N (NCI-TCGA:ENST00000565559) - p.Asp65Asn (Ensembl:ENST00000565559) - c.193G>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs2054148805 | 66 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409808G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409808G>A Locations: - p.Glu66Lys (Ensembl:ENST00000565559) - c.196G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs373946278 | 68 | K>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000015.10:g.42409815A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409815A>G Locations: - p.Lys68Arg (Ensembl:ENST00000565559) - c.203A>G (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs963600414 | 69 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409817A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409817A>G Locations: - p.Lys69Glu (Ensembl:ENST00000565559) - c.205A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs973969210 | 69 | K>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409818A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409818A>T Locations: - p.Lys69Met (Ensembl:ENST00000565559) - c.206A>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs759721684 | 69 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000015.10:g.42409819G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409819G>C Locations: - p.Lys69Asn (Ensembl:ENST00000565559) - c.207G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001923328 rs2054149654 | 72 | N>D | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409826A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409826A>G Locations: - p.Asn72Asp (Ensembl:ENST00000565559) - c.214A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs767593985 | 72 | N>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409827A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409827A>T Locations: - p.Asn72Ile (Ensembl:ENST00000565559) - c.215A>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
RCV001906304 RCV003146329 rs750373128 | 75 | V>A | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.239) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409836T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409836T>C Locations: - p.Val75Ala (Ensembl:ENST00000565559) - c.224T>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
rs750373128 | 75 | V>E | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.785) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409836T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409836T>A Locations: - p.Val75Glu (Ensembl:ENST00000565559) - c.224T>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511666 COSV55513612 RCV000644984 RCV000730359 rs553169803 | 75 | V>M | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000015.10:g.42409835G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409835G>A Locations: - p.Val75Met (Ensembl:ENST00000565559) - c.223G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs779681867 | 76 | N>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000015.10:g.42409840C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409840C>G Locations: - p.Asn76Lys (Ensembl:ENST00000565559) - c.228C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs758032407 | 76 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000015.10:g.42409839A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409839A>G Locations: - p.Asn76Ser (Ensembl:ENST00000565559) - c.227A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs201566716 | 78 | H>D | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000015.10:g.42409844C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409844C>G Locations: - p.His78Asp (Ensembl:ENST00000565559) - c.232C>G (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs747745544 | 78 | H>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409931A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409931A>C Locations: - p.His78Pro (Ensembl:ENST00000565559) - c.233A>C (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs756553513 | 78 | H>Q | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409932C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409932C>G Locations: - p.His78Gln (Ensembl:ENST00000565559) - c.234C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511670 RCV000343142 RCV000820657 rs201566716 | 78 | H>Y | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00002788 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000015.10:g.42409844C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409844C>T Locations: - p.H78Y (NCI-TCGA:ENST00000565559) - p.His78Tyr (Ensembl:ENST00000565559) - c.232C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
RCV001117729 RCV003145350 rs749614603 | 80 | D>E | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.04) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42409938C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409938C>G Locations: - p.Asp80Glu (Ensembl:ENST00000565559) - c.240C>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
RCV002048667 rs1278777392 | 83 | T>I | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42409946C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409946C>T Locations: - p.Thr83Ile (Ensembl:ENST00000565559) - c.248C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
RCV001923564 rs2141222124 | 84 | H>D | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000015.10:g.42409948C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409948C>G Locations: - p.His84Asp (Ensembl:ENST00000565559) - c.250C>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
CA7511704 COSV55520484 RCV000375518 RCV000644989 RCV003144189 rs140425651 RCV001278232 | 85 | G>R | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.0018 (ClinVar) Accession: NC_000015.10:g.42409951G>A, NC_000015.10:g.42409951G>C Codon: GGG/AGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409951G>A, NC_000015.10:g.42409951G>C Locations: - p.Gly85Arg (Ensembl:ENST00000565559) - c.253G>A (Ensembl:ENST00000565559) - c.253G>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs745965787 | 87 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409958C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409958C>T Locations: - p.Thr87Ile (Ensembl:ENST00000565559) - c.260C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1355979542 | 88 | L>P | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.624) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409961T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409961T>C Locations: - p.Leu88Pro (Ensembl:ENST00000565559) - c.263T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001217757 rs1355979542 | 88 | L>R | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000015.10:g.42409961T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409961T>G Locations: - p.Leu88Arg (Ensembl:ENST00000565559) - c.263T>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
RCV001349440 RCV003318684 rs2054156832 | 88 | L>V | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Likely benign (Ensembl) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409960C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409960C>G Locations: - p.Leu88Val (Ensembl:ENST00000565559) - c.262C>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
RCV001263858 rs2054157050 | 89 | E>* | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42409963G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409963G>T Locations: - p.Glu89Ter (Ensembl:ENST00000565559) - c.265G>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs775829841 | 90 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409966T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409966T>C Locations: - p.Ser90Pro (Ensembl:ENST00000565559) - c.268T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs564594188 | 91 | C>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409970G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409970G>C Locations: - p.Cys91Ser (Ensembl:ENST00000565559) - c.272G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511709 RCV000327815 RCV000675154 RCV003463760 rs764370512 | 92 | R>C | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000015.10:g.42409972C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409972C>T Locations: - p.Arg92Cys (Ensembl:ENST00000565559) - c.274C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
rs764370512 | 92 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409972C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409972C>G Locations: - p.Arg92Gly (Ensembl:ENST00000565559) - c.274C>G (Ensembl:ENST00000565559) Source type: large scale study | |||||||
CA7511710 CM148887 CM990320 COSV99782613 RCV000597401 RCV000644983 RCV002476300 RCV003387895 RCV003459469 rs190793093 | 92 | R>H | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) - MAF: 0.0004 (ClinVar) Accession: NC_000015.10:g.42409973G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409973G>A Locations: - p.R92H (NCI-TCGA:ENST00000565559) - p.Arg92His (Ensembl:ENST00000565559) - c.275G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study Cross-references: - NCI-TCGA: CM148887 - NCI-TCGA: CM990320 | |||||||
CA241128 RCV000175388 RCV001117730 rs762776236 | 94 | M>T | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42409979T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409979T>C Locations: - p.Met94Thr (Ensembl:ENST00000565559) - c.281T>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs2054157688 | 94 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.91) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409978A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409978A>G Locations: - p.Met94Val (Ensembl:ENST00000565559) - c.280A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1019046029 | 95 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409983T>G Codon: ATT/ATG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409983T>G Locations: - p.Ile95Met (Ensembl:ENST00000565559) - c.285T>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
COSV55519954 RCV001057234 RCV002497430 rs1008776680 | 95 | I>T | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000015.10:g.42409982T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409982T>C Locations: - p.Ile95Thr (Ensembl:ENST00000565559) - c.284T>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study Cross-references: | |||||||
RCV001240159 RCV002480792 RCV004034640 rs751443759 | 97 | L>F | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000015.10:g.42409987C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409987C>T Locations: - p.Leu97Phe (Ensembl:ENST00000565559) - c.289C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Inborn genetic diseases Source type: large scale study | |||||||
rs2054158442 | 98 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409991T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409991T>C Locations: - p.Met98Thr (Ensembl:ENST00000565559) - c.293T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs963938472 | 99 | D>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42409994A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409994A>C Locations: - p.Asp99Ala (Ensembl:ENST00000565559) - c.296A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001235258 rs2054176662 | 100 | T>A | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410428A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410428A>G Locations: - p.Thr100Ala (Ensembl:ENST00000565559) - c.298A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
COSV55519655 rs1335796666 | 100 | T>K | Variant of uncertain significance (Ensembl) | cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000015.10:g.42410429C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410429C>A Locations: - p.Thr100Lys (Ensembl:ENST00000565559) - c.299C>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV002023762 rs1335796666 | 100 | T>R | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410429C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410429C>G Locations: - p.Thr100Arg (Ensembl:ENST00000565559) - c.299C>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
CA7511744 RCV000542626 RCV000723534 RCV002476173 RCV003476296 RCV004538015 rs200379491 | 101 | D>G | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) CAPN3-related disorder (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000015.10:g.42410432A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410432A>G Locations: - p.Asp101Gly (Ensembl:ENST00000565559) - c.302A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - CAPN3-related disorder - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
CA10606740 RCV000324676 RCV000525491 rs886044427 | 101 | D>H | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410431G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410431G>C Locations: - p.Asp101His (Ensembl:ENST00000565559) - c.301G>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
rs200379491 | 101 | D>V | Pathogenic (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410432A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410432A>T Locations: - p.Asp101Val (Ensembl:ENST00000565559) - c.302A>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054177297 | 102 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410435G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410435G>A Locations: - p.Gly102Asp (Ensembl:ENST00000565559) - c.305G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1283640391 | 103 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000015.10:g.42410438C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410438C>G Locations: - p.Ser103Cys (Ensembl:ENST00000565559) - c.308C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA10605574 RCV000259707 rs886043484 | 103 | S>P | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410437T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410437T>C Locations: - p.Ser103Pro (Ensembl:ENST00000565559) - c.307T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs768848281 | 105 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.49) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410443A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410443A>G Locations: - p.Lys105Glu (Ensembl:ENST00000565559) - c.313A>G (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs768848281 | 105 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410443A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410443A>C Locations: - p.Lys105Gln (Ensembl:ENST00000565559) - c.313A>C (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs2054177662 | 105 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410444A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410444A>C Locations: - p.Lys105Thr (Ensembl:ENST00000565559) - c.314A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA241878 RCV000597464 RCV000798205 RCV003462280 rs794727318 | 106 | L>F | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410446C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410446C>T Locations: - p.Leu106Phe (Ensembl:ENST00000565559) - c.316C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study Cross-references: | |||||||
rs794727318 | 106 | L>V | Pathogenic (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410446C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410446C>G Locations: - p.Leu106Val (Ensembl:ENST00000565559) - c.316C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511748 RCV000644976 RCV001766384 RCV002507100 rs748363488 | 107 | N>D | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000015.10:g.42410449A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410449A>G Locations: - p.Asn107Asp (Ensembl:ENST00000565559) - c.319A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
rs886044264 | 107 | N>S | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410450A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410450A>G Locations: - p.Asn107Ser (Ensembl:ENST00000565559) - c.320A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA10606548 RCV000304626 RCV003631113 rs886044264 | 107 | N>T | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410450A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410450A>C Locations: - p.Asn107Thr (Ensembl:ENST00000565559) - c.320A>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
rs748363488 | 107 | N>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410449A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410449A>T Locations: - p.Asn107Tyr (Ensembl:ENST00000565559) - c.319A>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs1447064797 | 110 | E>* | gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000015.10:g.42410458G>T Codon: GAG/TAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410458G>T Locations: - p.Glu110Ter (Ensembl:ENST00000565559) - c.328G>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA10605085 RCV000412799 RCV000644995 RCV003475907 rs770894443 | 110 | E>D | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410460G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410460G>T Locations: - p.Glu110Asp (Ensembl:ENST00000565559) - c.330G>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
rs2054178801 | 111 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410463C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410463C>G Locations: - p.Phe111Leu (Ensembl:ENST00000565559) - c.333C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV002265220 rs999378228 | 111 | F>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410462T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410462T>C Locations: - p.Phe111Ser (Ensembl:ENST00000565559) - c.332T>C (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs999378228 | 111 | F>Y | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410462T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410462T>A Locations: - p.Phe111Tyr (Ensembl:ENST00000565559) - c.332T>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1351586112 | 112 | H>Q | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000015.10:g.42410466C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410466C>A Locations: - p.His112Gln (Ensembl:ENST00000565559) - c.336C>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1595846976 | 112 | H>Y | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.42410464C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410464C>T Locations: - p.His112Tyr (Ensembl:ENST00000565559) - c.334C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1260414145 | 113 | H>P | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410468A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410468A>C Locations: - p.His113Pro (Ensembl:ENST00000565559) - c.338A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1260414145 | 113 | H>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410468A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410468A>G Locations: - p.His113Arg (Ensembl:ENST00000565559) - c.338A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001053864 RCV003462561 rs774048414 | 115 | W>* | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000015.10:g.42410474G>A Codon: TGG/TAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410474G>A Locations: - p.Trp115Ter (Ensembl:ENST00000565559) - c.344G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study Cross-references: | |||||||
RCV001264018 rs2054179951 | 115 | W>* | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Somatic: No Accession: NC_000015.10:g.42410475G>A Codon: TGG/TGA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410475G>A Locations: - p.Trp115Ter (Ensembl:ENST00000565559) - c.345G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs1412254564 | 115 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410473T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410473T>C Locations: - p.Trp115Arg (Ensembl:ENST00000565559) - c.343T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs774048414 | 115 | W>S | Pathogenic (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410474G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410474G>C Locations: - p.Trp115Ser (Ensembl:ENST00000565559) - c.344G>C (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs1428996892 | 117 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410481G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410481G>C Locations: - p.Lys117Asn (Ensembl:ENST00000565559) - c.351G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs113653022 | 117 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410480A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410480A>C Locations: - p.Lys117Thr (Ensembl:ENST00000565559) - c.350A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1479682556 | 118 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410483T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410483T>C Locations: - p.Ile118Thr (Ensembl:ENST00000565559) - c.353T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001928098 rs759328241 | 119 | K>E | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410485A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410485A>G Locations: - p.Lys119Glu (Ensembl:ENST00000565559) - c.355A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
rs2054180657 | 120 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410488G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410488G>C Locations: - p.Ala120Pro (Ensembl:ENST00000565559) - c.358G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
COSV55515300 RCV001580650 RCV001580651 rs2141223812 | 120 | A>V | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000015.10:g.42410489C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410489C>T Locations: - p.A120V (NCI-TCGA:ENST00000565559) - p.Ala120Val (Ensembl:ENST00000565559) - c.359C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
RCV001091251 rs2054180829 | 122 | Q>* | Pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410494C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410494C>T Locations: - p.Gln122Ter (Ensembl:ENST00000565559) - c.364C>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs2054180917 | 122 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410495A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410495A>G Locations: - p.Gln122Arg (Ensembl:ENST00000565559) - c.365A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001580646 RCV001580647 rs2141224186 | 126 | K>T | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000015.10:g.42410598A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410598A>C Locations: - p.Lys126Thr (Ensembl:ENST00000565559) - c.377A>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study Cross-references: | |||||||
rs748202079 | 127 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410600C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410600C>T Locations: - p.His127Tyr (Ensembl:ENST00000565559) - c.379C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs367898987 | 128 | Y>* | Likely benign (Ensembl) | ESP ExAC gnomAD | |||
Consequence: missense Somatic: No Accession: NC_000015.10:g.42410605T>A Codon: TAT/TAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410605T>A Locations: - p.Tyr128Ter (Ensembl:ENST00000565559) - c.384T>A (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs560633604 | 128 | Y>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410604A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410604A>G Locations: - p.Tyr128Cys (Ensembl:ENST00000565559) - c.383A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs927755836 | 128 | Y>H | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410603T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410603T>C Locations: - p.Tyr128His (Ensembl:ENST00000565559) - c.382T>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054185503 | 129 | D>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410606G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410606G>C Locations: - p.Asp129His (Ensembl:ENST00000565559) - c.385G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs745655567 | 130 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410610C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410610C>T Locations: - p.Thr130Ile (Ensembl:ENST00000565559) - c.389C>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs745655567 | 130 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410610C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410610C>G Locations: - p.Thr130Arg (Ensembl:ENST00000565559) - c.389C>G (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs1307040035 | 131 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410614C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410614C>A Locations: - p.Asp131Glu (Ensembl:ENST00000565559) - c.393C>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1441359398 | 131 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000015.10:g.42410612G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410612G>A Locations: - p.Asp131Asn (Ensembl:ENST00000565559) - c.391G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001004959 rs1595847257 | 132 | Q>* | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000015.10:g.42410615C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410615C>T Locations: - p.Gln132Ter (Ensembl:ENST00000565559) - c.394C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
rs760574158 | 133 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410619C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410619C>T Locations: - p.Ser133Phe (Ensembl:ENST00000565559) - c.398C>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001509479 rs2141224306 | 133 | S>P | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410618T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410618T>C Locations: - p.Ser133Pro (Ensembl:ENST00000565559) - c.397T>C (Ensembl:ENST00000565559) Source type: large scale study | |||||||
CA269853659 RCV000594969 RCV001270825 rs750162858 | 134 | G>D | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410622G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410622G>A Locations: - p.Gly134Asp (Ensembl:ENST00000565559) - c.401G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
CA220344 COSV99783306 RCV000078091 RCV000644988 rs398123145 | 134 | G>S | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000796 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410621G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410621G>A Locations: - p.G134S (NCI-TCGA:ENST00000565559) - p.Gly134Ser (Ensembl:ENST00000565559) - c.400G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
CA7511775 RCV000593693 rs764798491 | 136 | I>V | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000015.10:g.42410627A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410627A>G Locations: - p.Ile136Val (Ensembl:ENST00000565559) - c.406A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
RCV001907811 rs886044480 | 138 | S>N | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410634G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410634G>A Locations: - p.Ser138Asn (Ensembl:ENST00000565559) - c.413G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
CA10606809 RCV000390338 RCV003517179 rs886044480 | 138 | S>T | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410634G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410634G>C Locations: - p.Ser138Thr (Ensembl:ENST00000565559) - c.413G>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
CA269853677 RCV000593493 RCV001247085 RCV003459470 rs147774793 | 139 | Y>* | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000015.10:g.42410638C>A, NC_000015.10:g.42410638C>G Codon: TAC/TAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410638C>A, NC_000015.10:g.42410638C>G Locations: - p.Tyr139Ter (Ensembl:ENST00000565559) - c.417C>A (Ensembl:ENST00000565559) - c.417C>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
CA392001887 RCV000595779 rs1555423160 | 140 | E>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410641G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410641G>T Locations: - p.Glu140Asp (Ensembl:ENST00000565559) - c.420G>T (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA242017 COSV104378143 RCV000176144 RCV001117732 rs752155690 | 140 | E>K | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000015.10:g.42410639G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410639G>A Locations: - p.Glu140Lys (Ensembl:ENST00000565559) - c.418G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
RCV001119286 rs752155690 | 140 | E>Q | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410639G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410639G>C Locations: - p.Glu140Gln (Ensembl:ENST00000565559) - c.418G>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
rs755577414 | 141 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410644G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410644G>T Locations: - p.Met141Ile (Ensembl:ENST00000565559) - c.423G>T (Ensembl:ENST00000565559) Source type: large scale study | |||||||
rs944905891 | 141 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.725) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410642A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410642A>G Locations: - p.Met141Val (Ensembl:ENST00000565559) - c.421A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511779 COSV107230872 RCV000279441 RCV000725244 RCV003475902 rs768090444 | 142 | R>* | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410645C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410645C>T Locations: - p.Arg142Ter (Ensembl:ENST00000565559) - c.424C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
RCV000660878 rs768090444 | 142 | R>G | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.721) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410645C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410645C>G Locations: - p.Arg142Gly (Ensembl:ENST00000565559) - c.424C>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
VAR_009598 CA345536 CM970224 COSV55522473 RCV000116542 RCV000489478 RCV001814062 RCV003474720 rs587780290 rs587780290,CM970224,COSV55522473 | 142 | R>Q | LGMDR1 (UniProt) Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Pathogenic (Ensembl, ClinVar, UniProt, NCI-TCGA) | UniProt ClinGen NCI-TCGA NCI-TCGA Cosmic cosmic curated ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001991 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000015.10:g.42410646G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410646G>A Locations: - p.R142Q (NCI-TCGA:ENST00000565559) - p.Arg748Gln (UniProt:P20807) - p.Arg142Gln (Ensembl:ENST00000565559) - c.425G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) Source type: mixed Cross-references: - NCI-TCGA: CM970224 | |||||||
RCV000668734 rs201012232 | 143 | N>H | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410648A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410648A>C Locations: - p.Asn143His (Ensembl:ENST00000565559) - c.427A>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
RCV000821812 rs371367772 | 144 | A>V | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000015.10:g.42410652C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410652C>T Locations: - p.Ala144Val (Ensembl:ENST00000565559) - c.431C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
rs2054187963 | 145 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410654G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410654G>C Locations: - p.Val145Leu (Ensembl:ENST00000565559) - c.433G>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054188043 | 146 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410657A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410657A>C Locations: - p.Asn146His (Ensembl:ENST00000565559) - c.436A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs11557721 | 146 | N>K | Likely benign (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000015.10:g.42410659C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410659C>A Locations: - p.Asn146Lys (Ensembl:ENST00000565559) - c.438C>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs756154767 | 146 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410658A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410658A>G Locations: - p.Asn146Ser (Ensembl:ENST00000565559) - c.437A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511784 COSV55515591 RCV000410341 RCV000723527 RCV001824134 RCV002265720 RCV002288958 rs146923842 | 147 | D>N | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) CAPN3-related disorder (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0008 (ClinVar) Accession: NC_000015.10:g.42410660G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410660G>A Locations: - p.Asp147Asn (Ensembl:ENST00000565559) - c.439G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - CAPN3-related disorder - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study Cross-references: | |||||||
RCV001280806 RCV001732108 RCV001786462 rs137927542 | 148 | A>T | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000015.10:g.42410663G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410663G>A Locations: - p.Ala148Thr (Ensembl:ENST00000565559) - c.442G>A (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study | |||||||
rs2054200105 | 149 | G>E | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410884G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410884G>A Locations: - p.Gly149Glu (Ensembl:ENST00000565559) - c.446G>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs774084092 | 150 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410887T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410887T>A Locations: - p.Phe150Tyr (Ensembl:ENST00000565559) - c.449T>A (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511815 RCV000270323 RCV000327631 RCV003144204 rs148246325 | 151 | H>Y | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Limb-girdle muscular dystrophy, recessive (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.001 (ClinVar) Accession: NC_000015.10:g.42410889C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410889C>T Locations: - p.His151Tyr (Ensembl:ENST00000565559) - c.451C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Limb-girdle muscular dystrophy, recessive Source type: large scale study | |||||||
rs1346532563 | 153 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410896A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410896A>G Locations: - p.Asn153Ser (Ensembl:ENST00000565559) - c.458A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1346532563 | 153 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410896A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410896A>C Locations: - p.Asn153Thr (Ensembl:ENST00000565559) - c.458A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs1209325874 | 154 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000015.10:g.42410898A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410898A>C Locations: - p.Asn154His (Ensembl:ENST00000565559) - c.460A>C (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs2054201184 | 154 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000015.10:g.42410900C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410900C>G Locations: - p.Asn154Lys (Ensembl:ENST00000565559) - c.462C>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
rs772552695 | 154 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.94) Somatic: No Accession: NC_000015.10:g.42410899A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410899A>G Locations: - p.Asn154Ser (Ensembl:ENST00000565559) - c.461A>G (Ensembl:ENST00000565559) Source type: large scale study Cross-references: | |||||||
CA7511818 RCV000597537 RCV002531039 rs373995517 | 155 | Q>P | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410902A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410902A>C Locations: - p.Gln155Pro (Ensembl:ENST00000565559) - c.464A>C (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study | |||||||
RCV001908137 rs1269949487 | 156 | L>F | Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410904C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410904C>T Locations: - p.Leu156Phe (Ensembl:ENST00000565559) - c.466C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) Source type: large scale study Cross-references: | |||||||
CA7511820 CD1514319 CM994482 RCV000301610 RCV000725121 RCV003226273 RCV003463744 rs764459544 | 157 | Y>C | Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) Autosomal recessive limb-girdle muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000007956 (gnomAD) - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410908A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410908A>G Locations: - p.Y157C (NCI-TCGA:ENST00000565559) - p.Tyr157Cys (Ensembl:ENST00000565559) - c.470A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 Source type: large scale study Cross-references: - NCI-TCGA: CD1514319 - NCI-TCGA: CM994482 | |||||||
VAR_009594 CA10604398 RCV000311834 RCV000725206 RCV003475900 rs886042557 | 702 | A>V | LGMDR1 (UniProt) Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42409985C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42409985C>T Locations: - p.Ala702Val (UniProt:P20807) - p.Ala96Val (Ensembl:ENST00000565559) - c.287C>T (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) Source type: mixed | |||||||
VAR_001369 RCV000670735 RCV001784265 RCV003330890 RCV003459619 rs750083132 | 744 | S>G | LGMDR1 (UniProt) Muscular dystrophy, limb-girdle, autosomal dominant 4 (ClinVar) Autosomal recessive limb-girdle muscular dystrophy type 2A (ClinVar) Autosomal recessive limb-girdle muscular dystrophy (ClinVar) | Pathogenic (Ensembl, ClinVar, UniProt) | UniProt ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000015.10:g.42410633A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42410633A>G Locations: - p.Ser744Gly (UniProt:P20807) - p.Ser138Gly (Ensembl:ENST00000565559) - c.412A>G (Ensembl:ENST00000565559) Disease association: - Autosomal recessive limb-girdle muscular dystrophy - Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMDR1) - Muscular dystrophy, limb-girdle, autosomal dominant 4 - Muscular dystrophy, limb-girdle, autosomal recessive 1 (LGMDR1) Source type: mixed |