ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7849A>G (p.Arg2617Gly)

gnomAD frequency: 0.00001  dbSNP: rs587782588
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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 RCV000131927 SCV000186982 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-26 criteria provided, single submitter clinical testing The p.R2617G variant (also known as c.7849A>G), located in coding exon 16 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7849. The arginine at codon 2617 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV001222317 SCV001394411 uncertain significance Hereditary breast ovarian cancer syndrome 2023-09-26 criteria provided, single submitter clinical testing 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. 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) performed at Invitae indicates that this missense variant is not expected to disrupt BRCA2 protein function. ClinVar contains an entry for this variant (Variation ID: 142615). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is present in population databases (rs587782588, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 2617 of the BRCA2 protein (p.Arg2617Gly).
Baylor Genetics RCV004567145 SCV005059056 uncertain significance Familial cancer of breast 2024-02-14 criteria provided, single submitter clinical testing

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