Q8N183 · NDUF2_HUMAN
- ProteinNADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 2
- GeneNDUFAF2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids169 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
CA359935449 RCV000590857 RCV003558449 rs1554076306 | 1 | M>L | Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000005.10:g.60945256A>T Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945256A>T Locations: - p.Met1Leu (ClinVar:ENST00000296597) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 10 Source type: large scale study Cross-references: | |||||||
rs1430192510 | 2 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.60945260G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945260G>C Locations: - p.Gly2Ala (Ensembl:ENST00000296597) - c.5G>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs866458871 | 2 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.317) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945259G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945259G>T Locations: - p.Gly2Cys (Ensembl:ENST00000296597) - c.4G>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs866458871 | 2 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.60945259G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945259G>C Locations: - p.Gly2Arg (Ensembl:ENST00000296597) - c.4G>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs866458871 | 2 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000005.10:g.60945259G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945259G>A Locations: - p.Gly2Ser (Ensembl:ENST00000296597) - c.4G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA359935468 RCV000590851 rs1554076309 | 3 | W>* | Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945264G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945264G>A Locations: - p.Trp3Ter (Ensembl:ENST00000296597) - c.9G>A (Ensembl:ENST00000296597) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 10 Source type: large scale study Cross-references: | |||||||
rs1750414120 | 3 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945263G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945263G>A Locations: - p.Trp3Ter (Ensembl:ENST00000296597) - c.8G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
VAR_081422 | 3-169 | WS>del | MC1DN10 (UniProt) | UniProt | |||
Consequence: inframe deletion Somatic: No Accession: Consequence type: inframe deletion Cytogenetic band: 5q12.1 Genomic location: Locations: - p.Trp3_Gln169del (UniProt:Q8N183) Disease association: - Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) Source type: uniprot Cross-references: | |||||||
COSV99410400 RCV000674445 rs772489808 | 5 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Cockayne syndrome type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003996 (gnomAD) Accession: NC_000005.10:g.60945268C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945268C>T Locations: - p.Q5* (NCI-TCGA:ENST00000296597) - p.Gln5Ter (Ensembl:ENST00000296597) - c.13C>T (Ensembl:ENST00000296597) Disease association: - Cockayne syndrome type 1 Source type: large scale study | |||||||
rs772489808 | 5 | Q>E | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000005.10:g.60945268C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945268C>G Locations: - p.Gln5Glu (Ensembl:ENST00000296597) - c.13C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs777941497 | 5 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000005.10:g.60945270G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945270G>C Locations: - p.Gln5His (Ensembl:ENST00000296597) - c.15G>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1294359960 | 5 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000005.10:g.60945269A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945269A>C Locations: - p.Gln5Pro (Ensembl:ENST00000296597) - c.14A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
TCGA novel | 5 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000005.10:g.60945269A>G Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945269A>G Locations: - c.14A>G (NCI-TCGA:ENST00000296597) - p.Q5R (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
CA10624863 RCV000326140 RCV000383048 RCV000668467 rs886060726 | 6 | D>E | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency (ClinVar) Cockayne syndrome type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.41) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000005.10:g.60945273T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945273T>G Locations: - p.Asp6Glu (Ensembl:ENST00000296597) - c.18T>G (Ensembl:ENST00000296597) Disease association: - Cockayne syndrome type 1 - Leigh syndrome (NULS) - Mitochondrial complex I deficiency Source type: large scale study | |||||||
COSV54015971 COSV54015971,COSV54017109 COSV54017109 | 6 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.61) Somatic: Yes Accession: NC_000005.10:g.60945271G>A Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945271G>A Locations: - c.16G>A (NCI-TCGA:ENST00000296597) - p.D6N (NCI-TCGA:ENST00000296597) Source type: large scale study | |||||||
COSV54015971 rs1750414710 | 6 | D>Y | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.60945271G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945271G>T Locations: - p.Asp6Tyr (Ensembl:ENST00000296597) - c.16G>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs745588302 | 8 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.60945279C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945279C>G Locations: - p.Phe8Leu (Ensembl:ENST00000296597) - c.24C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV54018593 rs769323668 | 9 | R>C | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.60945280C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945280C>T Locations: - p.Arg9Cys (Ensembl:ENST00000296597) - c.25C>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
COSV99410774 rs775103568 | 10 | A>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000005.10:g.60945283G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945283G>A Locations: - p.Ala10Thr (Ensembl:ENST00000296597) - c.28G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs374346406 | 11 | L>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945287T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945287T>C Locations: - p.Leu11Ser (Ensembl:ENST00000296597) - c.32T>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1750415294 | 12 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945291G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945291G>A Locations: - p.Trp12Ter (Ensembl:ENST00000296597) - c.36G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs368446242 | 13 | R>K | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000005.10:g.60945293G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945293G>A Locations: - p.Arg13Lys (Ensembl:ENST00000296597) - c.38G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs368446242 | 13 | R>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.60945293G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945293G>C Locations: - p.Arg13Thr (Ensembl:ENST00000296597) - c.38G>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
TCGA novel | 14 | S>C | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.60945296del Consequence type: frameshift Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945296del Locations: - c.41del (NCI-TCGA:ENST00000296597) - p.S14Cfs*6 (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
RCV001969374 rs761787794 | 14 | S>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Population frequencies: - MAF: 0.00009 (ClinVar) Accession: NC_000005.10:g.60945296C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945296C>T Locations: - p.Ser14Leu (Ensembl:ENST00000296597) - c.41C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs774438381 | 14 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.60945295T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945295T>C Locations: - p.Ser14Pro (Ensembl:ENST00000296597) - c.40T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1337496037 | 15 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.60945299T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945299T>C Locations: - p.Leu15Pro (Ensembl:ENST00000296597) - c.44T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1750415861 | 16 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945302C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945302C>A Locations: - p.Ser16Ter (Ensembl:ENST00000296597) - c.47C>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs772879291 | 17 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.60945304A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945304A>G Locations: - p.Arg17Gly (Ensembl:ENST00000296597) - c.49A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs141492697 | 17 | R>K | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.60945305G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945305G>A Locations: - p.Arg17Lys (Ensembl:ENST00000296597) - c.50G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs760999419 | 18 | E>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000005.10:g.60945309A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945309A>C Locations: - p.Glu18Asp (Ensembl:ENST00000296597) - c.54A>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
TCGA novel | 20 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.60945313A>G Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945313A>G Locations: - c.58A>G (NCI-TCGA:ENST00000296597) - p.K20E (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs158921 | 20 | K>N | Benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.597) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945315G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945315G>T Locations: - p.Lys20Asn (Ensembl:ENST00000296597) - c.60G>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1440955854 | 20 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000005.10:g.60945314A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945314A>G Locations: - p.Lys20Arg (Ensembl:ENST00000296597) - c.59A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs755078834 | 21 | E>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945317A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945317A>C Locations: - p.Glu21Ala (Ensembl:ENST00000296597) - c.62A>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs755078834 | 21 | E>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945317A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945317A>G Locations: - p.Glu21Gly (Ensembl:ENST00000296597) - c.62A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
TCGA novel | 21 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000005.10:g.60945316G>C Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945316G>C Locations: - c.61G>C (NCI-TCGA:ENST00000296597) - p.E21Q (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1439697276 | 22 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000005.10:g.60945319C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945319C>T Locations: - p.His22Tyr (Ensembl:ENST00000296597) - c.64C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1467779605 | 23 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945322G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945322G>C Locations: - p.Val23Leu (Ensembl:ENST00000296597) - c.67G>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV54019544 rs1467779605 | 23 | V>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000005.10:g.60945322G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945322G>A Locations: - p.Val23Met (Ensembl:ENST00000296597) - c.67G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1248004309 | 24 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.60945326G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945326G>A Locations: - p.Gly24Asp (Ensembl:ENST00000296597) - c.71G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1199099812 | 24 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.60945325G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945325G>A Locations: - p.Gly24Ser (Ensembl:ENST00000296597) - c.70G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1750417409 | 25 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.60945328A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945328A>G Locations: - p.Thr25Ala (Ensembl:ENST00000296597) - c.73A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1474133948 | 25 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945329C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945329C>T Locations: - p.Thr25Met (Ensembl:ENST00000296597) - c.74C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1750417692 | 26 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945333C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945333C>A Locations: - p.Asp26Glu (Ensembl:ENST00000296597) - c.78C>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA359935618 RCV000578640 rs1554076318 | 27 | Q>* | Likely pathogenic (Ensembl, ClinVar) | ClinGen ClinVar Ensembl dbSNP | |||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945334C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945334C>T Locations: - p.Gln27Ter (Ensembl:ENST00000296597) - c.79C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA319845 RCV000195504 RCV002517239 rs753215899 | 27 | Q>L | Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000005.10:g.60945335A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945335A>T Locations: - p.Gln27Leu (Ensembl:ENST00000296597) - c.80A>T (Ensembl:ENST00000296597) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs753215899 | 27 | Q>P | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.60945335A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945335A>C Locations: - p.Gln27Pro (Ensembl:ENST00000296597) - c.80A>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1750418234 | 28 | F>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945338T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945338T>G Locations: - p.Phe28Cys (Ensembl:ENST00000296597) - c.83T>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1580059779 | 28 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000005.10:g.60945339C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945339C>G Locations: - p.Phe28Leu (Ensembl:ENST00000296597) - c.84C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs778263229 | 29 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945340G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945340G>A Locations: - p.Gly29Arg (Ensembl:ENST00000296597) - c.85G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs778263229 | 29 | G>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945340G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945340G>T Locations: - p.Gly29Trp (Ensembl:ENST00000296597) - c.85G>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1750418619 | 30 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945344A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945344A>G Locations: - p.Asn30Ser (Ensembl:ENST00000296597) - c.89A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1430094821 | 32 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945351C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945351C>G Locations: - p.Tyr32Ter (Ensembl:ENST00000296597) - c.96C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs2112558186 | 32 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945350dup Codon: TAC/TAAC Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945350dup Locations: - p.Tyr32Ter (Ensembl:ENST00000296597) - c.95dup (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs755836979 | 32 | Y>C | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945350A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945350A>G Locations: - p.Tyr32Cys (Ensembl:ENST00000296597) - c.95A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1040183033 | 32 | Y>D | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945349T>G Codon: TAC/GAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945349T>G Locations: - p.Tyr32Asp (Ensembl:ENST00000296597) - c.94T>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1040183033 | 32 | Y>H | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945349T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945349T>C Locations: - p.Tyr32His (Ensembl:ENST00000296597) - c.94T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs748885030 | 33 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945354C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945354C>G Locations: - p.Tyr33Ter (Ensembl:ENST00000296597) - c.99C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA3278067 RCV000294764 RCV000386723 RCV003278786 rs779872068 | 33 | Y>C | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000005.10:g.60945353A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945353A>G Locations: - p.Tyr33Cys (Ensembl:ENST00000296597) - c.98A>G (Ensembl:ENST00000296597) Disease association: - Inborn genetic diseases - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
rs779872068 | 33 | Y>F | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.60945353A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945353A>T Locations: - p.Tyr33Phe (Ensembl:ENST00000296597) - c.98A>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
COSV54016786 RCV001156249 RCV001156250 rs773988847 | 34 | Y>H | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: tolerated (0.16) Somatic: Yes Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000005.10:g.60945355T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945355T>C Locations: - p.Tyr34His (Ensembl:ENST00000296597) - c.100T>C (Ensembl:ENST00000296597) Disease association: - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
CA658655567 RCV000001662 rs1554076324 | 35 | I>missing | Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar) | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.60945358del Consequence type: frameshift Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945358del Locations: - p.Ile35fs (ClinVar:ENST00000296597) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 10 Source type: large scale study | |||||||
rs748188210 | 35 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.60945358A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945358A>C Locations: - p.Ile35Leu (Ensembl:ENST00000296597) - c.103A>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs984636588 | 36 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.383) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.60945361C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945361C>T Locations: - p.Pro36Ser (Ensembl:ENST00000296597) - c.106C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
RCV000674171 rs1554076325 | 37 | Q>* | Cockayne syndrome type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945364C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945364C>T Locations: - p.Gln37Ter (Ensembl:ENST00000296597) - c.109C>T (Ensembl:ENST00000296597) Disease association: - Cockayne syndrome type 1 Source type: large scale study | |||||||
rs144006692 | 37 | Q>L | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.60945365A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945365A>T Locations: - p.Gln37Leu (Ensembl:ENST00000296597) - c.110A>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs144006692 | 37 | Q>R | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.60945365A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945365A>G Locations: - p.Gln37Arg (Ensembl:ENST00000296597) - c.110A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
CA3278074 RCV000485122 RCV000590864 RCV000674200 RCV000780529 RCV001335554 rs199754807 | 38 | Y>* | Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) Cockayne syndrome type 1 (ClinVar) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00005 (ClinVar) Accession: NC_000005.10:g.60945369C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945369C>G Locations: - p.Tyr38Ter (Ensembl:ENST00000296597) - c.114C>G (Ensembl:ENST00000296597) Disease association: - Cockayne syndrome type 1 - Mitochondrial complex 1 deficiency, nuclear type 10 - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
TCGA novel | 38 | Y>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.60945367T>A Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945367T>A Locations: - c.112T>A (NCI-TCGA:ENST00000296597) - p.Y38N (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
VAR_081423 | 38-169 | YK>del | MC1DN10; patient cells homozygous for the variant do not express detectable amounts of protein; complex I assembly is altered and activity is severely reduced in patient cells compared to control (UniProt) | UniProt | |||
Consequence: inframe deletion Somatic: No Accession: Consequence type: inframe deletion Cytogenetic band: 5q12.1 Genomic location: Locations: - p.Tyr38_Gln169del (UniProt:Q8N183) Disease association: - Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) Source type: uniprot Cross-references: | |||||||
rs766160147 | 39 | K>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945371A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945371A>T Locations: - p.Lys39Met (Ensembl:ENST00000296597) - c.116A>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
TCGA novel | 39 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.681) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.60945372G>T Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945372G>T Locations: - c.117G>T (NCI-TCGA:ENST00000296597) - p.K39N (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs376747316 | 40 | N>K | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.60945375C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945375C>G Locations: - p.Asn40Lys (Ensembl:ENST00000296597) - c.120C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs776841247 | 40 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000005.10:g.60945374A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945374A>G Locations: - p.Asn40Ser (Ensembl:ENST00000296597) - c.119A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1234905067 | 40 | N>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.60945373A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945373A>T Locations: - p.Asn40Tyr (Ensembl:ENST00000296597) - c.118A>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1750420562 | 41 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.60945377G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945377G>A Locations: - p.Trp41Ter (Ensembl:ENST00000296597) - c.122G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
RCV002003530 rs1561523202 | 41 | W>C | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000005.10:g.60945378G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945378G>C Locations: - p.Trp41Cys (Ensembl:ENST00000296597) - c.123G>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1750420483 | 41 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.60945376T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.60945376T>C Locations: - p.Trp41Arg (Ensembl:ENST00000296597) - c.121T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV99681801 | 43 | G>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.61073126A>G Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073126A>G Locations: - c.129A>G (NCI-TCGA:ENST00000296597) - p.G43= (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV56943107 | 43 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.61073125G>A Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073125G>A Locations: - c.128G>A (NCI-TCGA:ENST00000296597) - p.G43E (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
RCV001264587 RCV003669220 rs1752321639 | 44 | Q>missing | Leigh syndrome (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.61073127_61073128del Consequence type: frameshift Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073127_61073128del Locations: - p.Gln44fs (ClinVar:ENST00000296597) Disease association: - Leigh syndrome (NULS) Source type: large scale study | |||||||
CA322323 RCV000197862 RCV001157922 RCV001157923 RCV002515408 rs775605330 | 44 | Q>P | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.532) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000005.10:g.61073128A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073128A>C Locations: - p.Gln44Pro (Ensembl:ENST00000296597) - c.131A>C (Ensembl:ENST00000296597) Disease association: - Inborn genetic diseases - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
rs775605330 | 44 | Q>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.156) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000005.10:g.61073128A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073128A>G Locations: - p.Gln44Arg (Ensembl:ENST00000296597) - c.131A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs763179948 | 45 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000005.10:g.61073131C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073131C>T Locations: - p.Thr45Ile (Ensembl:ENST00000296597) - c.134C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1226560605 | 46 | I>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61073134T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073134T>G Locations: - p.Ile46Ser (Ensembl:ENST00000296597) - c.137T>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
RCV001157924 RCV001157925 rs1752321893 | 46 | I>V | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000005.10:g.61073133A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073133A>G Locations: - p.Ile46Val (Ensembl:ENST00000296597) - c.136A>G (Ensembl:ENST00000296597) Disease association: - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study Cross-references: | |||||||
CA115096 CM053986 COSV56942088 RCV000001661 RCV000624428 RCV000679870 RCV000779476 RCV000781647 RCV001582459 rs137852863 | 47 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) Leigh syndrome (ClinVar) Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) Inborn genetic diseases (ClinVar) Leigh syndrome (ls) (Ensembl) | Pathogenic (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA NCI-TCGA Cosmic ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00003986 (gnomAD) - MAF: 0.00003 (ClinVar) Accession: NC_000005.10:g.61073136C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073136C>T Locations: - p.R47* (NCI-TCGA:ENST00000296597) - p.Arg47Ter (Ensembl:ENST00000296597) - c.139C>T (Ensembl:ENST00000296597) Disease association: - Inborn genetic diseases - Leigh syndrome (NULS) - Mitochondrial complex 1 deficiency, nuclear type 10 - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study Cross-references: - NCI-TCGA: CM053986 | |||||||
CA324301 RCV000199750 rs762449995 | 47 | R>Q | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000005.10:g.61073137G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073137G>A Locations: - p.Arg47Gln (Ensembl:ENST00000296597) - c.140G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
VAR_081424 | 47-169 | RE>del | MC1DN10 (UniProt) | UniProt | |||
Consequence: inframe deletion Somatic: No Accession: Consequence type: inframe deletion Cytogenetic band: 5q12.1 Genomic location: Locations: - p.Arg47_Gln169del (UniProt:Q8N183) Disease association: - Mitochondrial complex I deficiency, nuclear type 10 (MC1DN10) Source type: uniprot Cross-references: | |||||||
rs1752322169 | 48 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.61073140A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073140A>G Locations: - p.Glu48Gly (Ensembl:ENST00000296597) - c.143A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV99681451 rs1378667377 | 48 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.657) - SIFT: tolerated (0.19) - PolyPhen: possibly damaging (0.509) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000003985 (gnomAD) Accession: NC_000005.10:g.61073139G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073139G>A Locations: - p.E48K (NCI-TCGA:ENST00000296597) - p.Glu48Lys (Ensembl:ENST00000296597) - c.142G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV99681451 | 48 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000005.10:g.61073139G>C Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073139G>C Locations: - c.142G>C (NCI-TCGA:ENST00000296597) - p.E48Q (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV99681673 rs1031796945 | 49 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.391) - SIFT: deleterious (0.04) - PolyPhen: benign (0.088) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61073142A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073142A>G Locations: - p.K49E (NCI-TCGA:ENST00000296597) - p.Lys49Glu (Ensembl:ENST00000296597) - c.145A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752322381 | 51 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.61073149T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073149T>C Locations: - p.Ile51Thr (Ensembl:ENST00000296597) - c.152T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs768120714 | 51 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.61073148A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073148A>G Locations: - p.Ile51Val (Ensembl:ENST00000296597) - c.151A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs915563763 | 52 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.61073151G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073151G>A Locations: - p.Val52Ile (Ensembl:ENST00000296597) - c.154G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV56942961 | 53 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.61073155A>G Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073155A>G Locations: - c.158A>G (NCI-TCGA:ENST00000296597) - p.E53G (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA324418 RCV000199863 RCV002515409 rs750914742 | 56 | N>S | Inborn genetic diseases (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000005.10:g.61073164A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073164A>G Locations: - p.Asn56Ser (Ensembl:ENST00000296597) - c.167A>G (Ensembl:ENST00000296597) Disease association: - Inborn genetic diseases Source type: large scale study | |||||||
rs2111732036 | 57 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000005.10:g.61073166A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073166A>G Locations: - p.Lys57Glu (Ensembl:ENST00000296597) - c.169A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs557660554 | 59 | E>* | 1000Genomes ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.61073172G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073172G>T Locations: - p.Glu59Ter (Ensembl:ENST00000296597) - c.175G>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1752322720 | 59 | E>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.61073173A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073173A>T Locations: - p.Glu59Val (Ensembl:ENST00000296597) - c.176A>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752322772 | 60 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000005.10:g.61073176T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073176T>C Locations: - p.Val60Ala (Ensembl:ENST00000296597) - c.179T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs766786517 | 61 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.61073179A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073179A>C Locations: - p.Asp61Ala (Ensembl:ENST00000296597) - c.182A>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
COSV56944703 | 61 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.602) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.61073178G>A Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073178G>A Locations: - c.181G>A (NCI-TCGA:ENST00000296597) - p.D61N (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs766786517 | 61 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.441) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61073179A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073179A>T Locations: - p.Asp61Val (Ensembl:ENST00000296597) - c.182A>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
RCV001784719 rs1561557254 | 62 | Y>missing | Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar) | Pathogenic (ClinVar) | ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000005.10:g.61073181del Consequence type: frameshift Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073181del Locations: - p.Tyr62fs (ClinVar:ENST00000296597) Disease association: - Mitochondrial complex 1 deficiency, nuclear type 10 Source type: large scale study Cross-references: | |||||||
rs777211630 | 62 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61073182A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073182A>G Locations: - p.Tyr62Cys (Ensembl:ENST00000296597) - c.185A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs758053501 | 62 | Y>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61073181T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073181T>G Locations: - p.Tyr62Asp (Ensembl:ENST00000296597) - c.184T>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752323289 | 64 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000005.10:g.61073187G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073187G>A Locations: - p.Ala64Thr (Ensembl:ENST00000296597) - c.190G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV56942348 | 65 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.61073190G>A Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073190G>A Locations: - c.193G>A (NCI-TCGA:ENST00000296597) - p.G65R (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV99681295 | 65 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.61073191G>T Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073191G>T Locations: - c.194G>T (NCI-TCGA:ENST00000296597) - p.G65V (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1267434222 | 66 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.61073195T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073195T>A Locations: - p.Asp66Glu (Ensembl:ENST00000296597) - c.198T>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs779886919 | 66 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.423) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.61073194A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073194A>G Locations: - p.Asp66Gly (Ensembl:ENST00000296597) - c.197A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA3278128 RCV000298358 RCV000336991 RCV003243110 rs769579395 | 66 | D>H | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) Inborn genetic diseases (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.00004 (ClinVar) Accession: NC_000005.10:g.61073193G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073193G>C Locations: - p.Asp66His (Ensembl:ENST00000296597) - c.196G>C (Ensembl:ENST00000296597) Disease association: - Inborn genetic diseases - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
rs769579395 | 66 | D>N | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000005.10:g.61073193G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073193G>A Locations: - p.Asp66Asn (Ensembl:ENST00000296597) - c.196G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1752323641 | 67 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61073197T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073197T>G Locations: - p.Ile67Ser (Ensembl:ENST00000296597) - c.200T>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV56936104 | 68 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000005.10:g.61073200C>T Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073200C>T Locations: - c.203C>T (NCI-TCGA:ENST00000296597) - p.P68L (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs749541428 | 69 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000005.10:g.61073203C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073203C>T Locations: - p.Thr69Ile (Ensembl:ENST00000296597) - c.206C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1421390594 | 70 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61073206A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073206A>G Locations: - p.Glu70Gly (Ensembl:ENST00000296597) - c.209A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV56937349 | 71 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000005.10:g.61073210G>A Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073210G>A Locations: - c.213G>A (NCI-TCGA:ENST00000296597) - p.W71* (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs768892194 | 71 | W>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61073208T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073208T>C Locations: - p.Trp71Arg (Ensembl:ENST00000296597) - c.211T>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs2111732152 | 72 | E>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61073212A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073212A>C Locations: - p.Glu72Ala (Ensembl:ENST00000296597) - c.215A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752323931 | 72 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61073211G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073211G>A Locations: - p.Glu72Lys (Ensembl:ENST00000296597) - c.214G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752675453 | 73 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61098992C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61098992C>G Locations: - p.Ala73Gly (Ensembl:ENST00000296597) - c.218C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs774343066 | 73 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.61073214G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61073214G>A Locations: - p.Ala73Thr (Ensembl:ENST00000296597) - c.217G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
CA3278149 RCV000587093 RCV001557146 RCV002497240 rs772294726 | 74 | W>* | Leigh syndrome (ClinVar) Mitochondrial complex 1 deficiency, nuclear type 10 (ClinVar) Leigh syndrome (ls) (Ensembl) | Pathogenic (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000005.10:g.61098995G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61098995G>A Locations: - p.Trp74Ter (Ensembl:ENST00000296597) - c.221G>A (Ensembl:ENST00000296597) Disease association: - Leigh syndrome (NULS) - Mitochondrial complex 1 deficiency, nuclear type 10 Source type: large scale study | |||||||
COSV99681274 | 74 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.61098996G>T Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61098996G>T Locations: - c.222G>T (NCI-TCGA:ENST00000296597) - p.W74C (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752675587 | 75 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.572) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61098998T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61098998T>C Locations: - p.Ile75Thr (Ensembl:ENST00000296597) - c.224T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752675620 | 76 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.61099001G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099001G>A Locations: - p.Arg76Lys (Ensembl:ENST00000296597) - c.227G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1352738477 | 78 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.61099006A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099006A>G Locations: - p.Thr78Ala (Ensembl:ENST00000296597) - c.232A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs747582929 | 78 | T>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.99) Somatic: No Accession: NC_000005.10:g.61099007C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099007C>G Locations: - p.Thr78Arg (Ensembl:ENST00000296597) - c.233C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1283656229 | 83 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61099021C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099021C>G Locations: - p.Pro83Ala (Ensembl:ENST00000296597) - c.247C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1239763692 | 83 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61099022C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099022C>A Locations: - p.Pro83His (Ensembl:ENST00000296597) - c.248C>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1239763692 | 83 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.713) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61099022C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099022C>T Locations: - p.Pro83Leu (Ensembl:ENST00000296597) - c.248C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752676007 | 84 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.61099024A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099024A>G Locations: - p.Thr84Ala (Ensembl:ENST00000296597) - c.250A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1752676007 | 84 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61099024A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099024A>C Locations: - p.Thr84Pro (Ensembl:ENST00000296597) - c.250A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs776904973 | 85 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.61099029G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099029G>A Locations: - p.Met85Ile (Ensembl:ENST00000296597) - c.255G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs771433967 | 85 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000005.10:g.61099027A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099027A>G Locations: - p.Met85Val (Ensembl:ENST00000296597) - c.253A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs759967471 | 86 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.401) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61099030G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61099030G>A Locations: - p.Glu86Lys (Ensembl:ENST00000296597) - c.256G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1327870556 | 88 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000005.10:g.61152707A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152707A>C Locations: - p.Ile88Leu (Ensembl:ENST00000296597) - c.262A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs781737888 | 88 | I>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152708T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152708T>C Locations: - p.Ile88Thr (Ensembl:ENST00000296597) - c.263T>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs746292576 | 90 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.61152713A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152713A>C Locations: - p.Lys90Gln (Ensembl:ENST00000296597) - c.268A>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
RCV002007011 rs2111838756 | 91 | N>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Somatic: No Accession: NC_000005.10:g.61152715_61152716delinsAG Codon: GAA/AGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152715_61152716delinsAG Locations: - p.Asn91Asp (Ensembl:ENST00000296597) - c.270_271delinsAG (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs770205548 | 91 | N>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152717A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152717A>T Locations: - p.Asn91Ile (Ensembl:ENST00000296597) - c.272A>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
RCV003404942 rs767565052 | 94 | H>missing | Variant of uncertain significance (ClinVar) | ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.61152725CA[1] Consequence type: frameshift Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152725CA[1] Locations: - p.His94fs (ClinVar:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1338638481 | 94 | H>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61152726A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152726A>T Locations: - p.His94Leu (Ensembl:ENST00000296597) - c.281A>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV99681367 rs1209299036 | 96 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.07) - PolyPhen: benign (0.312) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.61152731G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152731G>A Locations: - p.E96K (NCI-TCGA:ENST00000296597) - p.Glu96Lys (Ensembl:ENST00000296597) - c.286G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs527366210 | 97 | E>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.61152734G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152734G>T Locations: - p.Glu97Ter (Ensembl:ENST00000296597) - c.289G>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1741263066 | 97 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000005.10:g.61152736A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152736A>C Locations: - p.Glu97Asp (Ensembl:ENST00000296597) - c.291A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1166273303 | 100 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000005.10:g.61152744T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152744T>C Locations: - p.Ile100Thr (Ensembl:ENST00000296597) - c.299T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs771692093 | 101 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152746A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152746A>G Locations: - p.Lys101Glu (Ensembl:ENST00000296597) - c.301A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
COSV56943289 | 101 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.614) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.61152748A>C Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152748A>C Locations: - c.303A>C (NCI-TCGA:ENST00000296597) - p.K101N (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1379306871 | 103 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.61152752C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152752C>T Locations: - p.Gln103Ter (Ensembl:ENST00000296597) - c.307C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs772803188 | 103 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61152754A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152754A>C Locations: - p.Gln103His (Ensembl:ENST00000296597) - c.309A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs530506737 | 104 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61152755G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152755G>C Locations: - p.Asp104His (Ensembl:ENST00000296597) - c.310G>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
TCGA novel | 104 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.61152755G>A Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152755G>A Locations: - c.310G>A (NCI-TCGA:ENST00000296597) - p.D104N (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs530506737 | 104 | D>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152755G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152755G>T Locations: - p.Asp104Tyr (Ensembl:ENST00000296597) - c.310G>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
TCGA novel | 105 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.61152759T>G Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152759T>G Locations: - c.314T>G (NCI-TCGA:ENST00000296597) - p.F105C (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1741263620 | 107 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61152765A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152765A>G Locations: - p.Glu107Gly (Ensembl:ENST00000296597) - c.320A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs765744603 | 107 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.61152764G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152764G>C Locations: - p.Glu107Gln (Ensembl:ENST00000296597) - c.319G>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1361332952 | 110 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.597) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000005.10:g.61152775A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152775A>T Locations: - p.Lys110Asn (Ensembl:ENST00000296597) - c.330A>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1741263769 | 111 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61152777T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152777T>G Locations: - p.Leu111Arg (Ensembl:ENST00000296597) - c.332T>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1445036818 | 113 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000005.10:g.61152782A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152782A>G Locations: - p.Ser113Gly (Ensembl:ENST00000296597) - c.337A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs377746451 | 113 | S>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000005.10:g.61152783G>T Codon: AGT/ATT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152783G>T Locations: - p.Ser113Ile (Ensembl:ENST00000296597) - c.338G>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs377746451 | 113 | S>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000005.10:g.61152783G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152783G>C Locations: - p.Ser113Thr (Ensembl:ENST00000296597) - c.338G>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1377961254 | 114 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.61152785A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152785A>G Locations: - p.Lys114Glu (Ensembl:ENST00000296597) - c.340A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1741264026 | 115 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.61152788G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152788G>T Locations: - p.Glu115Ter (Ensembl:ENST00000296597) - c.343G>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
RCV001955453 rs2111838875 | 115 | E>D | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.61152790G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152790G>C Locations: - p.Glu115Asp (Ensembl:ENST00000296597) - c.345G>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1741264060 | 116 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.61152792C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152792C>T Locations: - p.Thr116Ile (Ensembl:ENST00000296597) - c.347C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1741264185 | 122 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000005.10:g.61152809C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152809C>G Locations: - p.Pro122Ala (Ensembl:ENST00000296597) - c.364C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs560683253 | 123 | P>L | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000005.10:g.61152813C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152813C>T Locations: - p.Pro123Leu (Ensembl:ENST00000296597) - c.368C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs765188308 | 123 | P>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000005.10:g.61152812C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152812C>A Locations: - p.Pro123Thr (Ensembl:ENST00000296597) - c.367C>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs752505537 | 124 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152815C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152815C>G Locations: - p.Pro124Ala (Ensembl:ENST00000296597) - c.370C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs752505537 | 124 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.61152815C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152815C>T Locations: - p.Pro124Ser (Ensembl:ENST00000296597) - c.370C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1196538331 | 125 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.237) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.61152818G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152818G>T Locations: - p.Val125Phe (Ensembl:ENST00000296597) - c.373G>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
COSV99681681 | 126 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000005.10:g.61152821C>G Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152821C>G Locations: - c.376C>G (NCI-TCGA:ENST00000296597) - p.Q126E (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs778159499 | 127 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000005.10:g.61152825C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152825C>T Locations: - p.Thr127Ile (Ensembl:ENST00000296597) - c.380C>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
CA322505 RCV000198027 rs760647945 | 129 | I>missing | Pathogenic (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.61152831_61152835del Consequence type: frameshift Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152831_61152835del Locations: - p.Ile129fs (ClinVar:ENST00000296597) Source type: large scale study | |||||||
rs1244524991 | 129 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152831T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152831T>A Locations: - p.Ile129Asn (Ensembl:ENST00000296597) - c.386T>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1477399802 | 131 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152837G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152837G>A Locations: - p.Gly131Asp (Ensembl:ENST00000296597) - c.392G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1741264927 | 133 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152843C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152843C>T Locations: - p.Ala133Val (Ensembl:ENST00000296597) - c.398C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs140013526 | 134 | S>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152846C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152846C>G Locations: - p.Ser134Cys (Ensembl:ENST00000296597) - c.401C>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
RCV001895876 rs992697884 | 134 | S>P | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000005.10:g.61152845T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152845T>C Locations: - p.Ser134Pro (Ensembl:ENST00000296597) - c.400T>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs201187582 | 135 | A>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000005.10:g.61152848G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152848G>A Locations: - p.Ala135Thr (Ensembl:ENST00000296597) - c.403G>A (Ensembl:ENST00000296597) Source type: large scale study | |||||||
COSV56938261 | 137 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.43) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000005.10:g.61152855A>G Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152855A>G Locations: - c.410A>G (NCI-TCGA:ENST00000296597) - p.Y137C (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1741265217 | 137 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000005.10:g.61152854T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152854T>C Locations: - p.Tyr137His (Ensembl:ENST00000296597) - c.409T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA3278195 RCV000302238 RCV000400065 rs770172045 | 138 | F>L | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) | Likely benign (Ensembl) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.34) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000005.10:g.61152859T>A, NC_000005.10:g.61152859T>G Codon: TTT/TTA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152859T>A, NC_000005.10:g.61152859T>G Locations: - p.Phe138Leu (Ensembl:ENST00000296597) - c.414T>A (Ensembl:ENST00000296597) - c.414T>G (Ensembl:ENST00000296597) Disease association: - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
rs373327649 | 138 | F>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.599) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152857T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152857T>G Locations: - p.Phe138Val (Ensembl:ENST00000296597) - c.412T>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs2062967010 | 140 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.61152864A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152864A>G Locations: - p.Lys140Arg (Ensembl:ENST00000296597) - c.419A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1467428339 | 141 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000005.10:g.61152866G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152866G>A Locations: - p.Glu141Lys (Ensembl:ENST00000296597) - c.421G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA3278196 RCV000266885 RCV000359308 RCV001861260 rs749677218 | 141 | E>V | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00006 (ClinVar) Accession: NC_000005.10:g.61152867A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152867A>T Locations: - p.Glu141Val (Ensembl:ENST00000296597) - c.422A>T (Ensembl:ENST00000296597) Disease association: - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
rs1326916757 | 142 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61152871A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152871A>C Locations: - p.Glu142Asp (Ensembl:ENST00000296597) - c.426A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1437284986 | 143 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000005.10:g.61152873C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152873C>T Locations: - p.Pro143Leu (Ensembl:ENST00000296597) - c.428C>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs967126073 | 143 | P>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000005.10:g.61152872C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152872C>A Locations: - p.Pro143Thr (Ensembl:ENST00000296597) - c.427C>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
TCGA novel | 144 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.61152876C>A Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152876C>A Locations: - c.431C>A (NCI-TCGA:ENST00000296597) - p.S144* (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1741265705 | 144 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.414) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152875T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152875T>C Locations: - p.Ser144Pro (Ensembl:ENST00000296597) - c.430T>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1276627263 | 145 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.61152878G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152878G>A Locations: - p.Val145Met (Ensembl:ENST00000296597) - c.433G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1741265823 | 147 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000005.10:g.61152884C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152884C>G Locations: - p.Pro147Ala (Ensembl:ENST00000296597) - c.439C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs772860405 | 148 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152887A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152887A>G Locations: - p.Ser148Gly (Ensembl:ENST00000296597) - c.442A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs936287273 | 148 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.61152888G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152888G>T Locations: - p.Ser148Ile (Ensembl:ENST00000296597) - c.443G>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs936287273 | 148 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152888G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152888G>A Locations: - p.Ser148Asn (Ensembl:ENST00000296597) - c.443G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1257232668 | 149 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152890A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152890A>T Locations: - p.Ser149Cys (Ensembl:ENST00000296597) - c.445A>T (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA3278200 RCV000585479 RCV000602804 RCV001152463 RCV001153733 rs9885480 | 151 | G>S | Leigh syndrome (ClinVar) Mitochondrial complex I deficiency, nuclear type 1 (ClinVar) | Benign (Ensembl, ClinVar) | ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.0012 (ClinVar) Accession: NC_000005.10:g.61152896G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152896G>A Locations: - p.Gly151Ser (Ensembl:ENST00000296597) - c.451G>A (Ensembl:ENST00000296597) Disease association: - Leigh syndrome (NULS) - Mitochondrial complex I deficiency, nuclear type 1 Source type: large scale study | |||||||
rs770536267 | 152 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000005.10:g.61152900A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152900A>G Locations: - p.Lys152Arg (Ensembl:ENST00000296597) - c.455A>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs1477153837 | 156 | P>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152912C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152912C>A Locations: - p.Pro156Gln (Ensembl:ENST00000296597) - c.467C>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA658796528 RCV000598761 rs1231742714 | 156 | P>missing | Variant of uncertain significance (ClinVar) | ClinGen ClinVar dbSNP | |||
Consequence: inframe deletion Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000005.10:g.61152910_61152912del Consequence type: inframe deletion Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152910_61152912del Locations: - p.Pro156del (ClinVar:ENST00000296597) Source type: large scale study | |||||||
COSV99681848 | 157 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.61152915G>A Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152915G>A Locations: - c.470G>A (NCI-TCGA:ENST00000296597) - p.G157E (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: | |||||||
TCGA novel | 159 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152922G>T Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152922G>T Locations: - c.477G>T (NCI-TCGA:ENST00000296597) - p.W159C (NCI-TCGA:ENST00000296597) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1741266551 | 160 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000005.10:g.61152923A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152923A>G Locations: - p.Met160Val (Ensembl:ENST00000296597) - c.478A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs765241458 | 162 | R>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000005.10:g.61152929C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152929C>T Locations: - p.Arg162Ter (Ensembl:ENST00000296597) - c.484C>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs765241458 | 162 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000005.10:g.61152929C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152929C>G Locations: - p.Arg162Gly (Ensembl:ENST00000296597) - c.484C>G (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs374701660 | 162 | R>P | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000005.10:g.61152930G>C Codon: CGA/CCA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152930G>C Locations: - p.Arg162Pro (Ensembl:ENST00000296597) - c.485G>C (Ensembl:ENST00000296597) Source type: large scale study | |||||||
CA323638 RCV000199100 rs374701660 | 162 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl, ClinVar, NCI-TCGA) | ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000005.10:g.61152930G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152930G>A Locations: - p.R162Q (NCI-TCGA:ENST00000296597) - p.Arg162Gln (Ensembl:ENST00000296597) - c.485G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
CA3278205 RCV000478282 RCV000779477 RCV004023109 rs753595274 | 164 | G>missing | NDUFAF2-related disorder (ClinVar) Inborn genetic diseases (ClinVar) | Likely benign (ClinVar) | ClinGen ClinVar dbSNP | ||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.61152936del Consequence type: frameshift Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152936del Locations: - p.Gly164fs (ClinVar:ENST00000296597) Disease association: - Inborn genetic diseases - NDUFAF2-related disorder Source type: large scale study Cross-references: | |||||||
rs763914930 | 164 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000005.10:g.61152935G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152935G>A Locations: - p.Gly164Ser (Ensembl:ENST00000296597) - c.490G>A (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs1390304521 | 167 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000005.10:g.61152945A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152945A>G Locations: - p.His167Arg (Ensembl:ENST00000296597) - c.500A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs552253221 | 168 | N>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000005.10:g.61152948A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152948A>G Locations: - p.Asn168Ser (Ensembl:ENST00000296597) - c.503A>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs552253221 | 168 | N>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.61152948A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152948A>C Locations: - p.Asn168Thr (Ensembl:ENST00000296597) - c.503A>C (Ensembl:ENST00000296597) Source type: large scale study Cross-references: | |||||||
rs371236767 | 168 | N>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.61152947A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152947A>T Locations: - p.Asn168Tyr (Ensembl:ENST00000296597) - c.502A>T (Ensembl:ENST00000296597) Source type: large scale study | |||||||
rs148637794 | 169 | Q>E | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000005.10:g.61152950C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 5q12.1 Genomic location: NC_000005.10:g.61152950C>G Locations: - p.Gln169Glu (Ensembl:ENST00000296597) - c.505C>G (Ensembl:ENST00000296597) Source type: large scale study Cross-references: |