ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4544G>A (p.Gly1515Glu) (rs398122688)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167065 SCV000217892 likely benign Hereditary cancer-predisposing syndrome 2017-07-31 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Color RCV000167065 SCV000909018 likely benign Hereditary cancer-predisposing syndrome 2018-04-13 criteria provided, single submitter clinical testing
GeneDx RCV000424762 SCV000535917 likely benign not specified 2016-12-31 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 RCV000470647 SCV000549317 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-15 criteria provided, single submitter clinical testing This sequence change replaces glycine with glutamic acid at codon 1515 of the BRCA1 protein (p.Gly1515Glu). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 91632). 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Sharing Clinical Reports Project (SCRP) RCV000077149 SCV000108946 likely benign Breast-ovarian cancer, familial 1 2014-01-27 no assertion criteria provided clinical testing

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