ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5384A>G (p.Lys1795Arg)

dbSNP: rs1566232357
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759623 SCV000889064 uncertain significance not provided 2017-09-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002298757 SCV002591786 uncertain significance Hereditary breast ovarian cancer syndrome 2023-02-01 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 619811). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. 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. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 1795 of the BRCA2 protein (p.Lys1795Arg). This variant is not present in population databases (gnomAD no frequency).
University of Washington Department of Laboratory Medicine, University of Washington RCV003158109 SCV003847207 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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