ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6193C>A (p.Gln2065Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003110031 SCV003761897 uncertain significance not provided 2022-07-26 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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 6421C>A; This variant is associated with the following publications: (PMID: 22193408, 9002670)
University of Washington Department of Laboratory Medicine, University of Washington RCV003157978 SCV003852306 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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