E5RG53 · E5RG53_HUMAN
- ProteinMinichromosome maintenance complex component 4
- GeneMCM4
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2090822778 | 2 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961148T>C Codon: TCG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961148T>C Locations: - p.Ser2Pro (Ensembl:ENST00000524086) - c.4T>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
CA4742140 RCV000422648 rs749871553 | 2 | S>W | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.47961149C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961149C>G Locations: - p.Ser2Trp (Ensembl:ENST00000524086) - c.5C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1342375033 | 4 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47961155C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961155C>T Locations: - p.Pro4Leu (Ensembl:ENST00000524086) - c.11C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs757978282 | 5 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.47961158C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961158C>G Locations: - p.Ala5Gly (Ensembl:ENST00000524086) - c.14C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1213281389 | 5 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000008.11:g.47961157G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961157G>A Locations: - p.Ala5Thr (Ensembl:ENST00000524086) - c.13G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs757978282 | 5 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000008.11:g.47961158C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961158C>T Locations: - p.Ala5Val (Ensembl:ENST00000524086) - c.14C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs940419261 | 7 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.47961163A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961163A>G Locations: - p.Thr7Ala (Ensembl:ENST00000524086) - c.19A>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs940419261 | 7 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961163A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961163A>C Locations: - p.Thr7Pro (Ensembl:ENST00000524086) - c.19A>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1423113160 | 8 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47961166C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961166C>G Locations: - p.Pro8Ala (Ensembl:ENST00000524086) - c.22C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs751296410 | 8 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961167C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961167C>T Locations: - p.Pro8Leu (Ensembl:ENST00000524086) - c.23C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs751296410 | 8 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961167C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961167C>A Locations: - p.Pro8Gln (Ensembl:ENST00000524086) - c.23C>A (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs751296410 | 8 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961167C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961167C>G Locations: - p.Pro8Arg (Ensembl:ENST00000524086) - c.23C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs754705495 | 9 | S>G | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000008.11:g.47961169A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961169A>G Locations: - p.Ser9Gly (Ensembl:ENST00000524086) - c.25A>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs754705495 | 9 | S>R | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.47961169A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961169A>C Locations: - p.Ser9Arg (Ensembl:ENST00000524086) - c.25A>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001934685 rs780975597 | 10 | R>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00008 (ClinVar) Accession: NC_000008.11:g.47961173G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961173G>T Locations: - p.Arg10Leu (Ensembl:ENST00000524086) - c.29G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs369039102 | 11 | R>C | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47961175C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961175C>T Locations: - p.Arg11Cys (Ensembl:ENST00000524086) - c.31C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
RCV000768261 RCV001772024 RCV004027213 rs369039102 | 11 | R>G | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Population frequencies: - MAF: 0.00016 (ClinVar) Accession: NC_000008.11:g.47961175C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961175C>G Locations: - p.Arg11Gly (Ensembl:ENST00000524086) - c.31C>G (Ensembl:ENST00000524086) Disease association: - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (IMD54) Source type: large scale study | |||||||
rs1589826140 | 12 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000008.11:g.47961179G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961179G>A Locations: - p.Gly12Asp (Ensembl:ENST00000524086) - c.35G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1264876613 | 12 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000008.11:g.47961178G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961178G>A Locations: - p.Gly12Ser (Ensembl:ENST00000524086) - c.34G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs972371975 | 13 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000008.11:g.47961181A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961181A>G Locations: - p.Ser13Gly (Ensembl:ENST00000524086) - c.37A>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs745911030 | 13 | S>I | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000008.11:g.47961182G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961182G>T Locations: - p.Ser13Ile (Ensembl:ENST00000524086) - c.38G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs745911030 | 13 | S>N | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000008.11:g.47961182G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961182G>A Locations: - p.Ser13Asn (Ensembl:ENST00000524086) - c.38G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs772251474 | 14 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47961184C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961184C>G Locations: - p.Arg14Gly (Ensembl:ENST00000524086) - c.40C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs775570577 | 14 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47961185G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961185G>A Locations: - p.Arg14Gln (Ensembl:ENST00000524086) - c.41G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs919651196 | 15 | R>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47961187C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961187C>T Locations: - p.Arg15Cys (Ensembl:ENST00000524086) - c.43C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090824396 | 16 | G>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.47961190G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961190G>T Locations: - p.Gly16Ter (Ensembl:ENST00000524086) - c.46G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs113188239 | 17 | R>S | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000008.11:g.47961195G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961195G>C Locations: - p.Arg17Ser (Ensembl:ENST00000524086) - c.51G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
COSV105082648 rs2090824630 | 19 | T>I | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000008.11:g.47961200C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961200C>T Locations: - p.Thr19Ile (Ensembl:ENST00000524086) - c.56C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090824630 | 19 | T>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000008.11:g.47961200C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961200C>A Locations: - p.Thr19Asn (Ensembl:ENST00000524086) - c.56C>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs760965938 | 20 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000008.11:g.47961202C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961202C>G Locations: - p.Pro20Ala (Ensembl:ENST00000524086) - c.58C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs931085507 | 20 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000008.11:g.47961203C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961203C>A Locations: - p.Pro20His (Ensembl:ENST00000524086) - c.59C>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs931085507 | 20 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000008.11:g.47961203C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961203C>G Locations: - p.Pro20Arg (Ensembl:ENST00000524086) - c.59C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs760965938 | 20 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000008.11:g.47961202C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961202C>T Locations: - p.Pro20Ser (Ensembl:ENST00000524086) - c.58C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs2090825059 | 21 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47961206C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961206C>A Locations: - p.Ala21Asp (Ensembl:ENST00000524086) - c.62C>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001942760 rs769093390 | 21 | A>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.47961205G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961205G>A Locations: - p.Ala21Thr (Ensembl:ENST00000524086) - c.61G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs777169136 | 22 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: tolerated (1) Somatic: No Accession: NC_000008.11:g.47961208C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961208C>G Locations: - p.Gln22Glu (Ensembl:ENST00000524086) - c.64C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090825144 | 22 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.47961210G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961210G>T Locations: - p.Gln22His (Ensembl:ENST00000524086) - c.66G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1281405597 | 23 | T>M | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961212C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961212C>T Locations: - p.Thr23Met (Ensembl:ENST00000524086) - c.68C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090825183 | 23 | T>P | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47961211A>C Codon: ACG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961211A>C Locations: - p.Thr23Pro (Ensembl:ENST00000524086) - c.67A>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1281405597 | 23 | T>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961212C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961212C>G Locations: - p.Thr23Arg (Ensembl:ENST00000524086) - c.68C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090825334 | 24 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000008.11:g.47961214C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961214C>G Locations: - p.Pro24Ala (Ensembl:ENST00000524086) - c.70C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV002012579 rs773938825 | 24 | P>L | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.337) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.47961516C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961516C>T Locations: - p.Pro24Leu (Ensembl:ENST00000524086) - c.71C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs773938825 | 24 | P>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961516C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961516C>G Locations: - p.Pro24Arg (Ensembl:ENST00000524086) - c.71C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1381829630 | 25 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000008.11:g.47961519G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961519G>T Locations: - p.Arg25Leu (Ensembl:ENST00000524086) - c.74G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001934322 rs2154504957 | 26 | S>N | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961522G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961522G>A Locations: - p.Ser26Asn (Ensembl:ENST00000524086) - c.77G>A (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1589826580 | 26 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47961523T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961523T>G Locations: - p.Ser26Arg (Ensembl:ENST00000524086) - c.78T>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090834502 | 27 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000008.11:g.47961526G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961526G>C Locations: - p.Glu27Asp (Ensembl:ENST00000524086) - c.81G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090834548 | 28 | D>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47961527G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961527G>C Locations: - p.Asp28His (Ensembl:ENST00000524086) - c.82G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090834548 | 28 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961527G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961527G>A Locations: - p.Asp28Asn (Ensembl:ENST00000524086) - c.82G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1563829737 | 29 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47961530G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961530G>A Locations: - p.Ala29Thr (Ensembl:ENST00000524086) - c.85G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
COSV105082527 RCV001365024 rs1356892224 | 30 | R>K | Variant of uncertain significance (Ensembl, ClinVar) | cosmic curated ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.46) Somatic: Yes Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.47961534G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961534G>A Locations: - p.Arg30Lys (Ensembl:ENST00000524086) - c.89G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs144696026 | 31 | S>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000008.11:g.47961536T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961536T>G Locations: - p.Ser31Ala (Ensembl:ENST00000524086) - c.91T>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1242616187 | 31 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47961537C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961537C>T Locations: - p.S31L (NCI-TCGA:ENST00000524086) - p.Ser31Leu (Ensembl:ENST00000524086) - c.92C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs144696026 | 31 | S>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961536T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961536T>C Locations: - p.Ser31Pro (Ensembl:ENST00000524086) - c.91T>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
COSV100031916 RCV001347900 rs755898364 | 33 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.25) Somatic: Yes Population frequencies: - MAF: 0.00001591 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.47961543C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961543C>T Locations: - p.P33L (NCI-TCGA:ENST00000524086) - p.Pro33Leu (Ensembl:ENST00000524086) - c.98C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs755898364 | 33 | P>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47961543C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961543C>G Locations: - p.Pro33Arg (Ensembl:ENST00000524086) - c.98C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs752402595 | 33 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961542C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961542C>T Locations: - p.Pro33Ser (Ensembl:ENST00000524086) - c.97C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs753670285 | 34 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47961545T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961545T>C Locations: - p.Ser34Pro (Ensembl:ENST00000524086) - c.100T>C (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs2090835223 | 35 | Q>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.47961550G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961550G>C Locations: - p.Gln35His (Ensembl:ENST00000524086) - c.105G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1444477217 | 36 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000007954 (gnomAD) Accession: NC_000008.11:g.47961552G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961552G>T Locations: - p.R36I (NCI-TCGA:ENST00000524086) - p.Arg36Ile (Ensembl:ENST00000524086) - c.107G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs757251763 | 37 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961554C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961554C>T Locations: - p.Arg37Cys (Ensembl:ENST00000524086) - c.109C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001982641 RCV004043703 rs200577338 | 37 | R>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.87) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.00003 (ClinVar) Accession: NC_000008.11:g.47961555G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961555G>A Locations: - p.Arg37His (Ensembl:ENST00000524086) - c.110G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs200577338 | 37 | R>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961555G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961555G>T Locations: - p.Arg37Leu (Ensembl:ENST00000524086) - c.110G>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1473382322 | 38 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.47961557A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961557A>G Locations: - p.Arg38Gly (Ensembl:ENST00000524086) - c.112A>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1019886177 | 39 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000008.11:g.47961560G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961560G>A Locations: - p.Gly39Ser (Ensembl:ENST00000524086) - c.115G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs755169604 | 40 | E>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.47961563G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961563G>T Locations: - p.Glu40Ter (Ensembl:ENST00000524086) - c.118G>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs781562997 | 40 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47961564A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961564A>G Locations: - p.Glu40Gly (Ensembl:ENST00000524086) - c.119A>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
COSV100031502 rs755169604 | 40 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.568) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000008.11:g.47961563G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961563G>A Locations: - p.E40K (NCI-TCGA:ENST00000524086) - p.Glu40Lys (Ensembl:ENST00000524086) - c.118G>A (Ensembl:ENST00000524086) Source type: large scale study | |||||||
COSV50622829 rs1589826664 | 41 | D>G | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000008.11:g.47961567A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961567A>G Locations: - p.Asp41Gly (Ensembl:ENST00000524086) - c.122A>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1563829804 | 42 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47961569T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961569T>G Locations: - p.Ser42Ala (Ensembl:ENST00000524086) - c.124T>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1589826671 | 42 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961570C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961570C>T Locations: - p.Ser42Phe (Ensembl:ENST00000524086) - c.125C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV002048843 RCV004044801 rs748390153 | 43 | T>I | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.47961573C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961573C>T Locations: - p.Thr43Ile (Ensembl:ENST00000524086) - c.128C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090835968 | 43 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961572A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961572A>C Locations: - p.Thr43Pro (Ensembl:ENST00000524086) - c.127A>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs773644335 | 45 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47961578A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961578A>G Locations: - p.Thr45Ala (Ensembl:ENST00000524086) - c.133A>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs2090836373 | 46 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961581G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961581G>A Locations: - p.Gly46Arg (Ensembl:ENST00000524086) - c.136G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1341026366 | 48 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961589G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961589G>C Locations: - p.Leu48Phe (Ensembl:ENST00000524086) - c.144G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090836472 | 48 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000008.11:g.47961587T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961587T>A Locations: - p.Leu48Met (Ensembl:ENST00000524086) - c.142T>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1283586424 | 49 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000008.11:g.47961590C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961590C>A Locations: - p.Gln49Lys (Ensembl:ENST00000524086) - c.145C>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs147886592 | 50 | P>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000008.11:g.47961593C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961593C>T Locations: - p.Pro50Ser (Ensembl:ENST00000524086) - c.148C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs774767030 | 51 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.08) Somatic: No Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000008.11:g.47961598G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961598G>A Locations: - p.M51I (NCI-TCGA:ENST00000524086) - p.Met51Ile (Ensembl:ENST00000524086) - c.153G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1486560672 | 51 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.355) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961597T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961597T>A Locations: - p.Met51Lys (Ensembl:ENST00000524086) - c.152T>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs2090836684 RCV001930656 | 51 | M>L | Variant of uncertain significance (Ensembl) | TOPMed gnomAD ClinVar dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000008.11:g.47961596A>C, NC_000008.11:g.47961596A>T Codon: ATG/CTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961596A>C, NC_000008.11:g.47961596A>T Locations: - p.Met51Leu (Ensembl:ENST00000524086) - c.151A>C (Ensembl:ENST00000524086) - c.151A>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001159742 RCV002070972 RCV004032844 rs200598421 | 53 | T>A | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar) | Likely benign (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000008.11:g.47961602A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961602A>G Locations: - p.Thr53Ala (Ensembl:ENST00000524086) - c.157A>G (Ensembl:ENST00000524086) Disease association: - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (IMD54) Source type: large scale study | |||||||
rs1589826712 | 53 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47961603C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961603C>A Locations: - p.Thr53Asn (Ensembl:ENST00000524086) - c.158C>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs200598421 | 53 | T>P | Likely benign (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961602A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961602A>C Locations: - p.Thr53Pro (Ensembl:ENST00000524086) - c.157A>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1813792992 | 55 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961609C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961609C>G Locations: - p.Pro55Arg (Ensembl:ENST00000524086) - c.164C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1489134595 | 56 | G>E | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961612G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961612G>A Locations: - p.Gly56Glu (Ensembl:ENST00000524086) - c.167G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001955960 rs577919855 | 57 | V>M | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.609) - SIFT: deleterious (0.05) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000008.11:g.47961614G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961614G>A Locations: - p.Val57Met (Ensembl:ENST00000524086) - c.169G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1258099602 | 58 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000008.11:g.47961619C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961619C>G Locations: - p.Asp58Glu (Ensembl:ENST00000524086) - c.174C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001987649 rs1443322079 | 58 | D>G | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.47961618A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961618A>G Locations: - p.Asp58Gly (Ensembl:ENST00000524086) - c.173A>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001946120 rs1258650632 | 58 | D>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.47961617G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961617G>C Locations: - p.Asp58His (Ensembl:ENST00000524086) - c.172G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs545383707 | 59 | L>P | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47961621T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961621T>C Locations: - p.Leu59Pro (Ensembl:ENST00000524086) - c.176T>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs375186387 | 61 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000008.11:g.47961627G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961627G>A Locations: - p.Ser61Asn (Ensembl:ENST00000524086) - c.182G>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs375186387 | 61 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000008.11:g.47961627G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961627G>C Locations: - p.Ser61Thr (Ensembl:ENST00000524086) - c.182G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001939256 rs564059293 | 62 | P>R | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.0002 (ClinVar) Accession: NC_000008.11:g.47961630C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961630C>G Locations: - p.Pro62Arg (Ensembl:ENST00000524086) - c.185C>G (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001928133 rs1034067956 | 62 | P>S | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000008.11:g.47961629C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961629C>T Locations: - p.Pro62Ser (Ensembl:ENST00000524086) - c.184C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1034067956 | 62 | P>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961629C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961629C>A Locations: - p.Pro62Thr (Ensembl:ENST00000524086) - c.184C>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
CA10631203 RCV000350595 rs886062974 | 63 | A>S | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen ClinVar TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.75) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.47961632G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961632G>T Locations: - p.Ala63Ser (Ensembl:ENST00000524086) - c.187G>T (Ensembl:ENST00000524086) Disease association: - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (IMD54) Source type: large scale study Cross-references: | |||||||
RCV002041572 rs1464698644 | 64 | A>T | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.13) Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000008.11:g.47961635G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961635G>A Locations: - p.Ala64Thr (Ensembl:ENST00000524086) - c.190G>A (Ensembl:ENST00000524086) Source type: large scale study | |||||||
COSV50625686 rs761564070 | 64 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.44) Somatic: Yes Accession: NC_000008.11:g.47961636C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961636C>T Locations: - p.Ala64Val (Ensembl:ENST00000524086) - c.191C>T (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs765208492 | 65 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000008.11:g.47961640G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961640G>T Locations: - p.Gln65His (Ensembl:ENST00000524086) - c.195G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs750454735 | 66 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.688) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47961643C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961643C>G Locations: - p.Asp66Glu (Ensembl:ENST00000524086) - c.198C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
RCV001964528 rs1056790 | 66 | D>H | Variant of uncertain significance (Ensembl, ClinVar) | ClinVar TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00001 (ClinVar) Accession: NC_000008.11:g.47961641G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961641G>C Locations: - p.Asp66His (Ensembl:ENST00000524086) - c.196G>C (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1381429191 | 66 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961642A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961642A>T Locations: - p.Asp66Val (Ensembl:ENST00000524086) - c.197A>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
CA4742207 COSV50624000 RCV000390420 RCV001850921 RCV004022075 rs755044869 | 67 | V>M | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar) Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar, NCI-TCGA) | ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.391) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00002395 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.47961644G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961644G>A Locations: - p.V67M (NCI-TCGA:ENST00000524086) - p.Val67Met (Ensembl:ENST00000524086) - c.199G>A (Ensembl:ENST00000524086) Disease association: - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (IMD54) Source type: large scale study | |||||||
rs781438229 | 68 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961648T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961648T>C Locations: - p.Leu68Pro (Ensembl:ENST00000524086) - c.203T>C (Ensembl:ENST00000524086) Source type: large scale study | |||||||
COSV50633197 rs189505289 | 71 | S>I | cosmic curated 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000008.11:g.47961657G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961657G>T Locations: - p.Ser71Ile (Ensembl:ENST00000524086) - c.212G>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs189505289 | 71 | S>T | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961657G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961657G>C Locations: - p.Ser71Thr (Ensembl:ENST00000524086) - c.212G>C (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1321004377 | 72 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961660C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961660C>A Locations: - p.Pro72His (Ensembl:ENST00000524086) - c.215C>A (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs1387121993 | 73 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000008.11:g.47961662C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961662C>T Locations: - p.Pro73Ser (Ensembl:ENST00000524086) - c.217C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
RCV001195736 rs1235010442 | 74 | Q>* | Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (ClinVar) | Likely pathogenic (Ensembl, ClinVar) | ClinVar dbSNP gnomAD | ||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0 (ClinVar) Accession: NC_000008.11:g.47961665C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961665C>T Locations: - p.Gln74Ter (Ensembl:ENST00000524086) - c.220C>T (Ensembl:ENST00000524086) Disease association: - Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency (IMD54) Source type: large scale study | |||||||
RCV001907708 rs1235010442 | 74 | Q>E | Likely pathogenic (Ensembl) | ClinVar dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000008.11:g.47961665C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961665C>G Locations: - p.Gln74Glu (Ensembl:ENST00000524086) - c.220C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1183283519 | 74 | Q>H | Likely benign (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000008.11:g.47961667A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961667A>C Locations: - p.Gln74His (Ensembl:ENST00000524086) - c.222A>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs781201350 | 75 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961669T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961669T>C Locations: - p.Met75Thr (Ensembl:ENST00000524086) - c.224T>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs752922408 | 76 | H>P | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000008.11:g.47961672A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961672A>C Locations: - p.His76Pro (Ensembl:ENST00000524086) - c.227A>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
COSV100031597 RCV002042937 rs752922408 | 76 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl, ClinVar) | NCI-TCGA Cosmic cosmic curated ClinVar ExAC dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.07) Somatic: Yes Population frequencies: - MAF: 0.000008062 (gnomAD) - MAF: 0.00002 (ClinVar) Accession: NC_000008.11:g.47961672A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961672A>G Locations: - p.H76R (NCI-TCGA:ENST00000524086) - p.His76Arg (Ensembl:ENST00000524086) - c.227A>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs2090838311 | 76 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000008.11:g.47961671C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961671C>T Locations: - p.His76Tyr (Ensembl:ENST00000524086) - c.226C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs756385853 | 77 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.71) - SIFT: deleterious (0) Somatic: No Accession: NC_000008.11:g.47961675C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961675C>G Locations: - p.Ser77Cys (Ensembl:ENST00000524086) - c.230C>G (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs370223383 | 79 | V>A | Likely benign (Ensembl) | ESP TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000008.11:g.47962078T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47962078T>C Locations: - p.Val79Ala (Ensembl:ENST00000524086) - c.236T>C (Ensembl:ENST00000524086) Source type: large scale study | |||||||
rs1204911889 | 79 | V>L | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000008.11:g.47961680G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47961680G>C Locations: - p.Val79Leu (Ensembl:ENST00000524086) - c.235G>C (Ensembl:ENST00000524086) Source type: large scale study Cross-references: | |||||||
rs754033155 | 81 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.47962083C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 8q11.21 Genomic location: NC_000008.11:g.47962083C>T Locations: - p.His81Tyr (Ensembl:ENST00000524086) - c.241C>T (Ensembl:ENST00000524086) Source type: large scale study Cross-references: |