rs41293463
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (G;G) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (G;T) | 6 | BRCA1 variant considered pathogenic for breast cancer |
| (T;T) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 43051071 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41293463 |
| dbSNP (classic) | rs41293463 |
| ClinGen | rs41293463 |
| ebi | rs41293463 |
| HLI | rs41293463 |
| Exac | rs41293463 |
| Gnomad | rs41293463 |
| Varsome | rs41293463 |
| LitVar | rs41293463 |
| Map | rs41293463 |
| PheGenI | rs41293463 |
| Biobank | rs41293463 |
| 1000 genomes | rs41293463 |
| hgdp | rs41293463 |
| ensembl | rs41293463 |
| geneview | rs41293463 |
| scholar | rs41293463 |
| rs41293463 | |
| pharmgkb | rs41293463 |
| gwascentral | rs41293463 |
| openSNP | rs41293463 |
| 23andMe | rs41293463 |
| SNPshot | rs41293463 |
| SNPdbe | rs41293463 |
| MSV3d | rs41293463 |
| GWAS Ctlg | rs41293463 |
| Max Magnitude | 6 |
rs41293463, also known as c.5324T>G (p.Met1775Arg or M1775R) as well as c.5324T>A (p.Met1775Lys or M1775K), is a SNP causing an amino acid change in the breast cancer 1 BRCA1 gene at amino position 1775.
A study found that the rs41293463(G) allele has impaired transcriptional ability, and this allele was found in some patients with breast cancer. It seems likely that primarily (G;G) homozygotes would be at increased risk for breast cancer but this has not been demonstrated. [PMID 8942979
]
ClinVar has designated both minor alleles as pathogenic for breast cancer.
This variant is considered to be the first BRCA1 mutation identified in an African-American family.[PMID 7545954] It is also among the most common hereditary breast cancer mutations observed in a group of Nigerian patients.[PMID 30130155]
23andMe name for the T>G variant: i5010037
- See also Omim 113705.0035
| ClinVar | |
|---|---|
| Risk | rs41293463(A;A) Rs41293463(G;G) |
| Alt | rs41293463(A;A) Rs41293463(G;G) |
| Reference | Rs41293463(T;T) |
| Significance | Other |
| Disease | Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41203088A>C; NC_000017.10:g.41203088A>T |
| CLNSRC | Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019264.9, RCV000048931.6, RCV000131375.4, RCV000167787.5, RCV000019265.7, RCV000048930.2, |
