ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8171G>A (p.Gly2724Glu)

gnomAD frequency: 0.00001  dbSNP: rs80359063
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505933 SCV000600788 uncertain significance not provided 2019-09-21 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776718 SCV000912348 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001217869 SCV001389727 uncertain significance Hereditary breast ovarian cancer syndrome 2024-09-08 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2724 of the BRCA2 protein (p.Gly2724Glu). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 439010). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on BRCA2 protein function. This variant disrupts the p.Gly2724 amino acid residue in BRCA2. Other variant(s) that disrupt this residue have been determined to be pathogenic (external communication, internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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.
Ambry Genetics RCV000776718 SCV004005405 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-12 criteria provided, single submitter clinical testing The p.G2724E variant (also known as c.8171G>A), located in coding exon 17 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8171. The glycine at codon 2724 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003476202 SCV004211914 uncertain significance Familial cancer of breast 2023-10-03 criteria provided, single submitter clinical testing

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