rs41293459
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 2 | increased risk for breast cancer |
| (G;G) | 0 | common in clinvar |
| Make rs41293459(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 43063930 |
| Gene | BRCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41293459 |
| dbSNP (classic) | rs41293459 |
| ClinGen | rs41293459 |
| ebi | rs41293459 |
| HLI | rs41293459 |
| Exac | rs41293459 |
| Gnomad | rs41293459 |
| Varsome | rs41293459 |
| LitVar | rs41293459 |
| Map | rs41293459 |
| PheGenI | rs41293459 |
| Biobank | rs41293459 |
| 1000 genomes | rs41293459 |
| hgdp | rs41293459 |
| ensembl | rs41293459 |
| geneview | rs41293459 |
| scholar | rs41293459 |
| rs41293459 | |
| pharmgkb | rs41293459 |
| gwascentral | rs41293459 |
| openSNP | rs41293459 |
| 23andMe | rs41293459 |
| SNPshot | rs41293459 |
| SNPdbe | rs41293459 |
| MSV3d | rs41293459 |
| GWAS Ctlg | rs41293459 |
| Max Magnitude | 2 |
rs41293459, also known as R1699Q, is a SNP in the BRCA1 gene. The more common (C) allele (on the dbSNP forward strand) encodes the amino acid arginine (R), while the rare (T) allele encodes glutamine (Q).
Note: dbSNP flipped the orientation of this SNP from the reverse strand (in assembly GRCh37) to the forward strand (in assembly GRCh38), so be wary of potential strand/allele confusion.
An analysis of 68 families with breast cancer and this R1699Q mutation indicated that it is associated with intermediate risk of breast and ovarian cancer. To put it another way, it's not as bad as the classic BRCA1 mutations, but it's not benign either; the estimated cumulative risks of developing breast cancer or ovarian cancer by age 70 for R1699Q carriers is 24%.[PMID 22889855
]
| ClinVar | |
|---|---|
| Risk | rs41293459(A;A) Rs41293459(C;C) rs41293459(T;T) |
| Alt | rs41293459(A;A) Rs41293459(C;C) rs41293459(T;T) |
| Reference | Rs41293459(G;G) |
| Significance | Other |
| Disease | Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| Variation | info |
| Gene | BRCA1 |
| CLNDBN | Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome |
| Reversed | 1 |
| HGVS | NC_000017.10:g.41215947C>A; NC_000017.10:g.41215947C>G; NC_000017.10:g.41215947C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000048792.2, RCV000112497.1, RCV000048791.2, RCV000112496.1, RCV000031217.13, RCV000048790.6, RCV000131564.3, RCV000195350.4, |
