ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8248A>C (p.Lys2750Gln)

dbSNP: rs2072759875
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001209782 SCV001381232 uncertain significance Hereditary breast ovarian cancer syndrome 2022-07-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 940241). 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 lysine, which is basic and polar, with glutamine, which is neutral and polar, at codon 2750 of the BRCA2 protein (p.Lys2750Gln).
Ambry Genetics RCV004601389 SCV005102145 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-09 criteria provided, single submitter clinical testing The p.K2750Q variant (also known as c.8248A>C), located in coding exon 17 of the BRCA2 gene, results from an A to C substitution at nucleotide position 8248. The lysine at codon 2750 is replaced by glutamine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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