ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.590C>G (p.Ser197Cys)

dbSNP: rs876659940
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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 RCV000217488 SCV000276911 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-06 criteria provided, single submitter clinical testing The p.S197C variant (also known as c.590C>G), located in coding exon 6 of the BRCA2 gene, results from a C to G substitution at nucleotide position 590. The serine at codon 197 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is highly 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 RCV000547022 SCV000635481 uncertain significance Hereditary breast ovarian cancer syndrome 2023-04-28 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 232710). 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. This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 197 of the BRCA2 protein (p.Ser197Cys).
GeneDx RCV003313059 SCV004012330 uncertain significance not provided 2023-07-03 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 818C>G

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