ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8434G>A (p.Gly2812Arg)

dbSNP: rs1555287645
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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 RCV000637478 SCV000758938 uncertain significance Hereditary breast ovarian cancer syndrome 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 2812 of the BRCA2 protein (p.Gly2812Arg). 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: 531280). Advanced 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 at Invitae 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. 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 RCV002448977 SCV002680729 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-02 criteria provided, single submitter clinical testing The p.G2812R variant (also known as c.8434G>A), located in coding exon 18 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8434. The glycine at codon 2812 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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