ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg) (rs397507245)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226938 SCV000289824 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-04-21 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1748 of the BRCA1 protein (p.Gly1748Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BRCA1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000989869 SCV001140478 likely pathogenic Breast-ovarian cancer, familial 1 2019-05-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023794 SCV001185714 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-18 criteria provided, single submitter clinical testing Insufficient evidence
Brotman Baty Institute,University of Washington RCV000989869 SCV001242460 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro

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