ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6829C>G (p.Leu2277Val)

dbSNP: rs786202214
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000575181 SCV000661368 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-29 criteria provided, single submitter clinical testing The p.L2277V variant (also known as c.6829C>G), located in coding exon 10 of the BRCA2 gene, results from a C to G substitution at nucleotide position 6829. The leucine at codon 2277 is replaced by valine, an amino acid with highly similar properties. This amino acid position is not conserved and valine is a reference amino acid in several species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758939 SCV000887897 uncertain significance not provided 2018-02-09 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV000575181 SCV003847491 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).
Labcorp Genetics (formerly Invitae), Labcorp RCV005091296 SCV005771029 uncertain significance Hereditary breast ovarian cancer syndrome 2024-12-16 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2277 of the BRCA2 protein (p.Leu2277Val). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 479357). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. 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.

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