|(C;C)||2||increased risk for breast cancer|
|(C;T)||2||increased risk for breast cancer|
|Disease||Familial cancer of breast Breast-ovarian cancer not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome|
|CLNDBN||Familial cancer of breast Breast-ovarian cancer, familial 1 not provided Hereditary cancer-predisposing syndrome Hereditary breast and ovarian cancer syndrome|
|CLNACC||RCV000048858.2, RCV000112563.1, RCV000031229.5, RCV000048857.6, RCV000131291.3, RCV000195366.4,|
rs45553935 is a tri-allelic SNP in the BRCA1 gene. The reference nucleotide at this position (on the forward strand as listed in dbSNP) is (T); the alternative alleles are (C) and (G). rs45553935(C) corresponds to a BRCA1 change known as Val1736Ala or V1736A, whereas rs45553935(G) corresponds to Val1736Gly or V1736G.
This BRCA1 SNP is listed at pathogenic for breast cancer in ClinVar, although the evidence is somewhat indirect. For V1736A, there is now a publication studying the change in depth and concluding it does predispose carriers to breast cancer.[PMID 23269703],[PMID 23580280]
The evidence indicating V1736G is pathogenic appears to primarily be computational (i.e. predictive, such as ) and should be treated with caution. There are breast cancer patients harboring the BRCA1 V1736G mutation, but to our knowledge, to date there is no pedigree or other direct evidence confirming pathogenicity.