ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4358A>G (p.Lys1453Arg)

dbSNP: rs2072502303
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001327889 SCV001518982 uncertain significance Hereditary breast ovarian cancer syndrome 2020-02-17 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 1453 of the BRCA2 protein (p.Lys1453Arg). The lysine residue is weakly conserved and there is a small physicochemical difference between lysine and arginine. This variant has not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
University of Washington Department of Laboratory Medicine, University of Washington RCV003158749 SCV003850449 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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