ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.-16A>G (rs777262055)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424886 SCV000518293 likely benign not specified 2016-06-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000692018 SCV000819823 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-06 criteria provided, single submitter clinical testing
Color Health, Inc RCV000776486 SCV000912064 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-16 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000424886 SCV001437337 uncertain significance not specified 2020-09-14 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.-16A>G is located in the untranslated mRNA region upstream of the initiation codon. The variant allele was found at a frequency of 1.2e-05 in 250290 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.-16A>G has been reported in the literature in at least one individual affected with breast cancer (e.g. Burke_2018). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Experimental evidence evaluating an impact on protein function through utilization of a cell-survival assay as a measure of functional HDR pathway, demonstrated the variant to be functional (Findlay_2018). Two ClinVar submitters (evaluation after 2014) cite the variant as likely benign and one ClinVar submitter (evaluation after 2014) cites the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Brotman Baty Institute,University of Washington RCV001078058 SCV001244095 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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