|(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 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
|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 OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000019264.9, RCV000048931.6, RCV000131375.4, RCV000167787.5, RCV000019265.7, RCV000048930.2,|