ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5961G>C (p.Gln1987His)

dbSNP: rs387907575
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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 RCV001321005 SCV001511818 uncertain significance Hereditary breast ovarian cancer syndrome 2021-08-31 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 1987 of the BRCA2 protein (p.Gln1987His). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
GeneDx RCV001773640 SCV002004271 uncertain significance not provided 2019-12-04 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Also known as 6189G>C
University of Washington Department of Laboratory Medicine, University of Washington RCV003158729 SCV003850815 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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