ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7270A>G (p.Arg2424Gly)

gnomAD frequency: 0.00003  dbSNP: rs786202621
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165519 SCV000216251 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-24 criteria provided, single submitter clinical testing The p.R2424G variant (also known as c.7270A>G), located in coding exon 13 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7270. The arginine at codon 2424 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000702277 SCV000831125 uncertain significance Hereditary breast ovarian cancer syndrome 2018-03-04 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 2424 of the BRCA2 protein (p.Arg2424Gly). The arginine residue is weakly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 186000).
Baylor Genetics RCV003462177 SCV004216066 uncertain significance Familial cancer of breast 2023-06-24 criteria provided, single submitter clinical testing

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