ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9842C>T (p.Pro3281Leu)

dbSNP: rs1593201899
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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 RCV001019801 SCV001181206 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-09 criteria provided, single submitter clinical testing The p.P3281L variant (also known as c.9842C>T), located in coding exon 26 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9842. The proline at codon 3281 is replaced by leucine, an amino acid with similar 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 RCV001213642 SCV001385285 uncertain significance Hereditary breast ovarian cancer syndrome 2022-05-07 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: 823504). 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 proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 3281 of the BRCA2 protein (p.Pro3281Leu).
All of Us Research Program, National Institutes of Health RCV004004591 SCV004824171 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2023-03-04 criteria provided, single submitter clinical testing

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