| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal
|
| (C;T)
|
6
|
Likely miscall in Ancestry data; otherwise, BRCA1 variant likely to be pathogenic for breast cancer
|
| (T;T)
|
6
|
carrier of two copies of BRCA1 variant; likely to be at higher risk for breast/ovarian cancer
|
rs55770810, also known as c.5095C>T or R1699W, is a SNP in the BRCA1 gene. The more common (C) allele encodes the amino acid arginine (R), while the rare (T) allele encodes a tryptophan (W).
An analysis of sequence variants of unknown clinical significance in the BRCA1 and BRCA2 genes concluded that this SNP was among the top 10 (over both genes) likely to lead to breast cancer, with a calculated odds of over 1,000:1 against this just being a spurious association. Although the clinical importance has not been proven, this may still be of use for genetic counseling.[PMID 17924331
]
This SNP is also represented on some 23andMe microarrays as i5010082.
| ClinVar
|
| Risk
|
rs55770810(A;A) Rs55770810(T;T) |
| Alt
|
rs55770810(A;A) Rs55770810(T;T) |
| Reference
|
Rs55770810(C;C) |
| Significance |
Pathogenic |
| Disease |
Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer Hereditary cancer-predisposing syndrome Breast and colorectal cancer not provided Fanconi anemia Ovarian cancer Familial cancer of breast |
| Variation | info |
|---|
| Gene |
BRCA1 |
| CLNDBN |
Hereditary breast and ovarian cancer syndrome Breast-ovarian cancer, familial 1 Hereditary cancer-predisposing syndrome Breast and colorectal cancer not provided Fanconi anemia, complementation group A Ovarian cancer Familial cancer of breast |
| Reversed |
1 |
| HGVS |
NC_000017.10:g.41215948G>A; NC_000017.10:g.41215948G>T |
| CLNSRC |
Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation UniProtKB (protein) |
| CLNACC |
RCV000048789.6, RCV000077595.5, RCV000131821.3, RCV000148390.1, RCV000159999.3, RCV000191041.1, RCV000239322.1, RCV000457515.1, RCV000048788.3, RCV000165701.1, |
]
