ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8559A>G (p.Lys2853=)

dbSNP: rs1057520669
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000440350 SCV000516826 likely benign not specified 2015-04-24 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.
Color Diagnostics, LLC DBA Color Health RCV001525970 SCV001736197 likely benign Hereditary cancer-predisposing syndrome 2020-11-06 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV001525970 SCV002531957 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-02 criteria provided, single submitter curation
Ambry Genetics RCV001525970 SCV002676299 likely benign Hereditary cancer-predisposing syndrome 2020-09-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.

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