ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3707A>G (p.Asn1236Ser) (rs863224760)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000198979 SCV000254980 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-07-08 criteria provided, single submitter clinical testing This sequence change replaces asparagine with serine at codon 1236 of the BRCA1 protein (p.Asn1236Ser). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and serine. This variant has been reported in the literature but is not present in population databases. This variant has been reported in breast and/or ovarian cancer patients (PMID: 25802882). 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. In summary, this is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
GeneDx RCV000424940 SCV000512302 likely benign not specified 2016-06-22 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.
Ambry Genetics RCV000510050 SCV000607968 uncertain significance Hereditary cancer-predisposing syndrome 2017-03-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)

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