rs80357438
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 6 | BRCA1 variant considered likely to be pathogenic for ovarian cancer (by ClinVar) |
| (C;T) | 6 | BRCA1 variant considered pathogenic for breast cancer (by most ClinVar submitters) |
| (T;T) | 0 | common in clinvar |
| Make rs80357438(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 43124032 |
| Gene | BRCA1, NBR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80357438 |
| dbSNP (classic) | rs80357438 |
| ClinGen | rs80357438 |
| ebi | rs80357438 |
| HLI | rs80357438 |
| Exac | rs80357438 |
| Gnomad | rs80357438 |
| Varsome | rs80357438 |
| LitVar | rs80357438 |
| Map | rs80357438 |
| PheGenI | rs80357438 |
| Biobank | rs80357438 |
| 1000 genomes | rs80357438 |
| hgdp | rs80357438 |
| ensembl | rs80357438 |
| geneview | rs80357438 |
| scholar | rs80357438 |
| rs80357438 | |
| pharmgkb | rs80357438 |
| gwascentral | rs80357438 |
| openSNP | rs80357438 |
| 23andMe | rs80357438 |
| SNPshot | rs80357438 |
| SNPdbe | rs80357438 |
| MSV3d | rs80357438 |
| GWAS Ctlg | rs80357438 |
| Max Magnitude | 6 |
aka c.65T>C, p.Leu22Ser, L22S
This variant is classified by the majority of sources in ClinVar as being pathogenic for breast cancer, however, other sources feel that it is more appropriate to classify it as a variant of unknown significance (VUS) for the time being. Basically, while predicted to be a pathogenic mutation, because it hasn't been seen in enough patients the jury is still out. One of the private (commercial) databases also classifies it as a VUS according to [PMID 28408614
].
Note that another variant, c.65T>A or p.Leu22Ter, also exists for this SNP; it is considered likely to be pathogenic for ovarian cancer according to ClinVar.
23andMe name for the T>C variant: i5010342
| ClinVar | |
|---|---|
| Risk | rs80357438(A;A) rs80357438(C;C) |
| Alt | rs80357438(A;A) rs80357438(C;C) |
| Reference | Rs80357438(T;T) |
| Significance | Pathogenic |
| Disease | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome not provided Ovarian cancer |
| Variation | info |
| Gene | NBR2 BRCA1 |
| CLNDBN | Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome not provided Ovarian cancer |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41276049A>G; NC_000017.10:g.41276049A>T |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
| CLNACC | RCV000049081.3, RCV000083224.6, RCV000162704.2, RCV000479212.1, RCV000239088.1, |
