H7C3T0 · H7C3T0_HUMAN
- ProteinCOP9 signalosome subunit 6
- GeneCOPS6
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids123 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV100385039 rs1795296243 | 2 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.100090431G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090431G>T Locations: - p.G2C (NCI-TCGA:ENST00000426712) - p.Gly2Cys (Ensembl:ENST00000426712) - c.4G>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1179213458 | 4 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100090437T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090437T>C Locations: - p.Tyr4His (Ensembl:ENST00000426712) - c.10T>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs773625233 | 5 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.100090440A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090440A>T Locations: - p.Thr5Ser (Ensembl:ENST00000426712) - c.13A>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1171597307 | 6 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.100090444C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090444C>T Locations: - p.Thr6Ile (Ensembl:ENST00000426712) - c.17C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs749622502 | 7 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.100090447G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090447G>C Locations: - p.Gly7Ala (Ensembl:ENST00000426712) - c.20G>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs771471221 | 8 | G>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100090449G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090449G>T Locations: - p.Gly8Trp (Ensembl:ENST00000426712) - c.22G>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs376570259 | 9 | P>S | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.77) Somatic: No Accession: NC_000007.14:g.100090452C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090452C>T Locations: - p.Pro9Ser (Ensembl:ENST00000426712) - c.25C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs759319444 | 11 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000007.14:g.100090460C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090460C>A Locations: - p.Asp11Glu (Ensembl:ENST00000426712) - c.33C>A (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs2116536661 | 12 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.100090462C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090462C>G Locations: - p.Pro12Arg (Ensembl:ENST00000426712) - c.35C>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
COSV57993924 rs370286743 | 13 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.16) Somatic: Yes Population frequencies: - MAF: 0.00002784 (gnomAD) Accession: NC_000007.14:g.100090465C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090465C>T Locations: - p.S13L (NCI-TCGA:ENST00000426712) - p.Ser13Leu (Ensembl:ENST00000426712) - c.38C>T (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs1253365202 | 16 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.100090473C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090473C>T Locations: - p.His16Tyr (Ensembl:ENST00000426712) - c.46C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs766190524 | 17 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.91) Somatic: No Accession: NC_000007.14:g.100090476G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090476G>A Locations: - p.Val17Ile (Ensembl:ENST00000426712) - c.49G>A (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs2116536978 | 23 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.168) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.100090598G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090598G>A Locations: - p.Glu23Lys (Ensembl:ENST00000426712) - c.67G>A (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1359812367 | 24 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.100090601A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090601A>C Locations: - p.Ile24Leu (Ensembl:ENST00000426712) - c.70A>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs756187791 | 27 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100090611G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090611G>T Locations: - p.Ser27Ile (Ensembl:ENST00000426712) - c.80G>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1795301457 | 29 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.432) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.100090616C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090616C>T Locations: - p.Leu29Phe (Ensembl:ENST00000426712) - c.85C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1447052366 | 30 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000007.14:g.100090619T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090619T>C Locations: - p.Phe30Leu (Ensembl:ENST00000426712) - c.88T>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs778057315 | 35 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.100090634C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090634C>G Locations: - p.Pro35Ala (Ensembl:ENST00000426712) - c.103C>G (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs1160104645 | 35 | P>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100090635C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090635C>G Locations: - p.Pro35Arg (Ensembl:ENST00000426712) - c.104C>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs778057315 | 35 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.100090634C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090634C>T Locations: - p.Pro35Ser (Ensembl:ENST00000426712) - c.103C>T (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs1421041516 | 36 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000007.14:g.100090637A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090637A>G Locations: - p.Met36Val (Ensembl:ENST00000426712) - c.106A>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1384605841 | 37 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000007.14:g.100090641C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090641C>G Locations: - p.Thr37Ser (Ensembl:ENST00000426712) - c.110C>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1237306336 | 39 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000007.14:g.100090646C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090646C>A Locations: - p.His39Asn (Ensembl:ENST00000426712) - c.115C>A (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1584479392 | 39 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.100090648C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090648C>G Locations: - p.His39Gln (Ensembl:ENST00000426712) - c.117C>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1221166173 | 40 | T>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.100090650C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090650C>G Locations: - p.Thr40Arg (Ensembl:ENST00000426712) - c.119C>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs753980345 | 41 | D>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100090653A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090653A>T Locations: - p.Asp41Val (Ensembl:ENST00000426712) - c.122A>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1326114411 | 43 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100090906C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090906C>T Locations: - p.Pro43Leu (Ensembl:ENST00000426712) - c.128C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1465584482 | 43 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.100090905C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090905C>T Locations: - p.Pro43Ser (Ensembl:ENST00000426712) - c.127C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1167813472 | 44 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000007.14:g.100090908G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090908G>A Locations: - p.Val44Ile (Ensembl:ENST00000426712) - c.130G>A (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1167813472 | 44 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.100090908G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090908G>C Locations: - p.Val44Leu (Ensembl:ENST00000426712) - c.130G>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs779537986 | 46 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.91) Somatic: No Accession: NC_000007.14:g.100090914G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090914G>A Locations: - p.Val46Ile (Ensembl:ENST00000426712) - c.136G>A (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs780345066 | 53 | I>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.571) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100090936T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090936T>G Locations: - p.Ile53Arg (Ensembl:ENST00000426712) - c.158T>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs376706271 | 53 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000007.14:g.100090935A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090935A>G Locations: - p.Ile53Val (Ensembl:ENST00000426712) - c.157A>G (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs768233021 | 54 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.453) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.100090940C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090940C>G Locations: - p.Ile54Met (Ensembl:ENST00000426712) - c.162C>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs780857138 | 55 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.100090942A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090942A>G Locations: - p.Asn55Ser (Ensembl:ENST00000426712) - c.164A>G (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs1396816437 | 56 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.100090945G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100090945G>C Locations: - p.Gly56Ala (Ensembl:ENST00000426712) - c.167G>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1161103280 | 60 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.100091044A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091044A>G Locations: - p.Met60Val (Ensembl:ENST00000426712) - c.178A>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs755360522 | 63 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.49) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100091054C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091054C>A Locations: - p.Ala63Asp (Ensembl:ENST00000426712) - c.188C>A (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs373185695 | 74 | A>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.100091087C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091087C>T Locations: - p.Ala74Val (Ensembl:ENST00000426712) - c.221C>T (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs748834508 | 75 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100091089G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091089G>C Locations: - p.Glu75Gln (Ensembl:ENST00000426712) - c.223G>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1355680735 | 76 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000007.14:g.100091092C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091092C>T Locations: - p.R76C (NCI-TCGA:ENST00000426712) - p.Arg76Cys (Ensembl:ENST00000426712) - c.226C>T (Ensembl:ENST00000426712) Source type: large scale study | |||||||
COSV57998676 rs1795309638 | 76 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.100091093G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091093G>A Locations: - p.R76H (NCI-TCGA:ENST00000426712) - p.Arg76His (Ensembl:ENST00000426712) - c.227G>A (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs2116538020 | 86 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100091123C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091123C>T Locations: - p.Thr86Ile (Ensembl:ENST00000426712) - c.257C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
COSV57999111 rs1262089538 | 87 | A>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.48) Somatic: Yes Accession: NC_000007.14:g.100091125G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091125G>A Locations: - p.Ala87Thr (Ensembl:ENST00000426712) - c.259G>A (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1430101038 | 88 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.100091129C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091129C>T Locations: - p.Thr88Ile (Ensembl:ENST00000426712) - c.263C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs193921011 | 90 | S>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.100091134A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091134A>T Locations: - p.Ser90Cys (Ensembl:ENST00000426712) - c.268A>T (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs193921011 | 90 | S>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.100091134A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091134A>G Locations: - p.Ser90Gly (Ensembl:ENST00000426712) - c.268A>G (Ensembl:ENST00000426712) Source type: large scale study | |||||||
CA174533 COSV57994983 RCV000149188 rs193921011 | 90 | S>R | Malignant tumor of prostate (ClinVar) | Variant of uncertain significance (Ensembl, ClinVar) | ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000007.14:g.100091134A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091134A>C Locations: - p.Ser90Arg (Ensembl:ENST00000426712) - c.268A>C (Ensembl:ENST00000426712) Disease association: - Malignant tumor of prostate Source type: large scale study | |||||||
rs1795310093 | 90 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.100091136T>G Codon: AGT/AGG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091136T>G Locations: - p.Ser90Arg (Ensembl:ENST00000426712) - c.270T>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs183823744 | 91 | G>E | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.100091138G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091138G>A Locations: - p.Gly91Glu (Ensembl:ENST00000426712) - c.272G>A (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs1367570179 | 91 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.555) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.100091137G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091137G>A Locations: - p.Gly91Arg (Ensembl:ENST00000426712) - c.271G>A (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs762180235 | 92 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.100091142G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091142G>C Locations: - p.Glu92Asp (Ensembl:ENST00000426712) - c.276G>C (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs201466188 | 96 | V>A | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.100091238T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091238T>C Locations: - p.Val96Ala (Ensembl:ENST00000426712) - c.287T>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs372319928 | 97 | A>T | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.100091240G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091240G>A Locations: - p.Ala97Thr (Ensembl:ENST00000426712) - c.289G>A (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs1255127705 | 101 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.100091254A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091254A>G Locations: - p.Ile101Met (Ensembl:ENST00000426712) - c.303A>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1795312287 | 104 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.100091262A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091262A>G Locations: - p.His104Arg (Ensembl:ENST00000426712) - c.311A>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1238120086 | 104 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.100091261C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091261C>T Locations: - p.His104Tyr (Ensembl:ENST00000426712) - c.310C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1236013316 | 108 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.100091275G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091275G>C Locations: - p.Lys108Asn (Ensembl:ENST00000426712) - c.324G>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1217802178 | 112 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.22) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.100091285A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091285A>G Locations: - p.Ser112Gly (Ensembl:ENST00000426712) - c.334A>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs753019844 | 112 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.100091286G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091286G>A Locations: - p.Ser112Asn (Ensembl:ENST00000426712) - c.335G>A (Ensembl:ENST00000426712) Source type: large scale study | |||||||
COSV100384752 rs558924563 | 114 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.56) Somatic: Yes Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000007.14:g.100091291G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091291G>A Locations: - p.V114I (NCI-TCGA:ENST00000426712) - p.Val114Ile (Ensembl:ENST00000426712) - c.340G>A (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs753564148 | 115 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000007.14:g.100091295A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091295A>G Locations: - p.Lys115Arg (Ensembl:ENST00000426712) - c.344A>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1447900303 | 117 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000007.14:g.100091300A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091300A>C Locations: - p.Ile117Leu (Ensembl:ENST00000426712) - c.349A>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1178807122 | 119 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.584) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.100091307A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091307A>C Locations: - p.Glu119Ala (Ensembl:ENST00000426712) - c.356A>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs747909039 | 119 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.100091420G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091420G>C Locations: - p.Glu119Asp (Ensembl:ENST00000426712) - c.357G>C (Ensembl:ENST00000426712) Source type: large scale study | |||||||
rs1421867634 | 122 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000007.14:g.100091428C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091428C>T Locations: - p.Pro122Leu (Ensembl:ENST00000426712) - c.365C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1187371557 | 122 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000007.14:g.100091427C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091427C>T Locations: - p.Pro122Ser (Ensembl:ENST00000426712) - c.364C>T (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs771143512 | 123 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000007.14:g.100091430C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091430C>G Locations: - p.Leu123Val (Ensembl:ENST00000426712) - c.367C>G (Ensembl:ENST00000426712) Source type: large scale study Cross-references: | |||||||
rs1795316468 | 124 | *>Q | Ensembl | ||||
Consequence: stop lost Somatic: No Accession: NC_000007.14:g.100091433T>C Codon: TAA/CAA Consequence type: stop lost Cytogenetic band: 7q22.1 Genomic location: NC_000007.14:g.100091433T>C Locations: - p.Ter124GlnextTer2 (Ensembl:ENST00000426712) - c.370T>C (Ensembl:ENST00000426712) Source type: large scale study Cross-references: |