ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6409A>G (p.Asn2137Asp)

dbSNP: rs1555284672
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000637665 SCV000759134 uncertain significance Hereditary breast ovarian cancer syndrome 2017-10-19 criteria provided, single submitter clinical testing 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 2137 of the BRCA2 protein (p.Asn2137Asp). The asparagine residue is weakly conserved and there is a small physicochemical difference between asparagine and aspartic acid.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157784 SCV003852499 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).
GeneDx RCV004768491 SCV005379281 uncertain significance not provided 2023-11-13 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 6637A>G; This variant is associated with the following publications: (PMID: 36243179, 31911673)

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