ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8756G>C (p.Gly2919Ala)

dbSNP: rs80359131
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001284593 SCV001470456 uncertain significance not provided 2019-11-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002375328 SCV002685093 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-27 criteria provided, single submitter clinical testing The p.G2919A variant (also known as c.8756G>C), located in coding exon 21 of the BRCA2 gene, results from a G to C substitution at nucleotide position 8756. The glycine at codon 2919 is replaced by alanine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002541766 SCV003453864 uncertain significance Hereditary breast ovarian cancer syndrome 2024-02-23 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2919 of the BRCA2 protein (p.Gly2919Ala). 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: 993211). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine 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.

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