ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6957A>C (p.Arg2319Ser)

dbSNP: rs398122573
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000229784 SCV000283305 uncertain significance Hereditary breast ovarian cancer syndrome 2022-07-15 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: 91466). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is present in population databases (rs398122573, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 2319 of the BRCA2 protein (p.Arg2319Ser).
PreventionGenetics, part of Exact Sciences RCV000679182 SCV000805753 uncertain significance not provided 2017-11-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000773094 SCV000906541 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773094 SCV002663809 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-12 criteria provided, single submitter clinical testing The p.R2319S variant (also known as c.6957A>C), located in coding exon 12 of the BRCA2 gene, results from an A to C substitution at nucleotide position 6957. The arginine at codon 2319 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is 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.
GeneDx RCV000679182 SCV005080593 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 7185A>C
Sharing Clinical Reports Project (SCRP) RCV000076983 SCV000108780 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2013-03-15 no assertion criteria provided clinical testing

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