ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2821G>C (p.Val941Leu)

dbSNP: rs863224586
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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 RCV000568314 SCV000661381 uncertain significance Hereditary cancer-predisposing syndrome 2024-09-21 criteria provided, single submitter clinical testing The p.V941L variant (also known as c.2821G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 2821. The valine at codon 941 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is not well 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 RCV001858085 SCV002148638 uncertain significance Hereditary breast ovarian cancer syndrome 2022-11-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 479366). 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. 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. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 941 of the BRCA2 protein (p.Val941Leu).
University of Washington Department of Laboratory Medicine, University of Washington RCV000568314 SCV003850164 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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