|(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|
rs41293463, also known as c.5324T>G (p.Met1775Arg) as well as c.5324T>A (p.Met1775Lys), 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.
- See also Omim 113705.0035
|Disease||Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast|
|CLNDBN||Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome Familial cancer of breast|
|CLNSRC||Database of BRCA1 and BRCA2 sequence variants that have been clinically reclassified by a quantitative integrated evaluation Children's Hospital of Eastern Ontario OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000019264.9, RCV000048931.5, RCV000131375.3, RCV000167787.4, RCV000019265.7, RCV000048930.2,|