ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1229A>G (p.Lys410Arg)

dbSNP: rs1555281782
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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 RCV000551134 SCV000635150 uncertain significance Hereditary breast ovarian cancer syndrome 2017-07-04 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 sequence change replaces lysine with arginine at codon 410 of the BRCA2 protein (p.Lys410Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157635 SCV003849925 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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