ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.43A>G (p.Ile15Val)

dbSNP: rs80357031
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001224243 SCV001396430 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 15 of the BRCA1 protein (p.Ile15Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with breast and/or ovarian cancer (PMID: 12815604, 30702160). This variant is also known as c.162A>G. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on BRCA1 function (PMID: 25823446, 30209399). 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.
Ambry Genetics RCV002327373 SCV002629099 likely benign Hereditary cancer-predisposing syndrome 2021-03-11 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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 RCV001072363 SCV001237731 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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