ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg)

dbSNP: rs398122757
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700243 SCV000828991 uncertain significance Hereditary breast ovarian cancer syndrome 2024-10-12 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 981 of the BRCA2 protein (p.Lys981Arg). This variant is not present in population databases (gnomAD no frequency). 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: 91791). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt BRCA2 protein function with a negative predictive value of 95%. 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.
Ambry Genetics RCV002433582 SCV002747842 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-15 criteria provided, single submitter clinical testing The p.K981R variant (also known as c.2942A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 2942. The lysine at codon 981 is replaced by arginine, an amino acid with highly similar properties. This amino acid position is poorly 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003155066 SCV003844669 uncertain significance not specified 2023-02-14 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV002433582 SCV003850258 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).
Sharing Clinical Reports Project (SCRP) RCV000077699 SCV000109502 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-07-27 no assertion criteria provided clinical testing

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