ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5126A>T (p.Asp1709Val)

dbSNP: rs786202836
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001776944 SCV002013933 uncertain significance not provided 2021-03-08 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 5354A>T
University of Washington Department of Laboratory Medicine, University of Washington RCV003158940 SCV003847015 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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