ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.14C>T (p.Ala5Val)

dbSNP: rs1335137805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698926 SCV000827617 uncertain significance Hereditary breast ovarian cancer syndrome 2019-04-16 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 5 of the BRCA1 protein (p.Ala5Val). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and valine. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV000698926 SCV002026053 likely benign Hereditary breast ovarian cancer syndrome 2021-11-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388292 SCV002702081 likely benign Hereditary cancer-predisposing syndrome 2020-12-10 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Brotman Baty Institute, University of Washington RCV001077640 SCV001243598 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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