ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5901G>C (p.Lys1967Asn)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002294852 SCV002596110 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-31 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. 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: 1721162). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 1967 of the BRCA2 protein (p.Lys1967Asn).
University of Washington Department of Laboratory Medicine, University of Washington RCV003157176 SCV003850766 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).
Ambry Genetics RCV003157176 SCV005552922 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-22 criteria provided, single submitter clinical testing The p.K1967N variant (also known as c.5901G>C), located in coding exon 10 of the BRCA2 gene, results from a G to C substitution at nucleotide position 5901. The lysine at codon 1967 is replaced by asparagine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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