ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6856A>C (p.Lys2286Gln)

gnomAD frequency: 0.00001  dbSNP: rs398122567
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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 RCV000474302 SCV000549796 uncertain significance Hereditary breast ovarian cancer syndrome 2024-04-23 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2286 of the BRCA2 protein (p.Lys2286Gln). 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: 91460). 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 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 RCV002362719 SCV002666040 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-22 criteria provided, single submitter clinical testing The p.K2286Q variant (also known as c.6856A>C), located in coding exon 11 of the BRCA2 gene, results from an A to C substitution at nucleotide position 6856. The lysine at codon 2286 is replaced by glutamine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Sharing Clinical Reports Project (SCRP) RCV000076977 SCV000108774 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2009-12-09 no assertion criteria provided clinical testing

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