ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7918A>G (p.Lys2640Glu)

dbSNP: rs2072747596
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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 RCV001298538 SCV001487597 uncertain significance Hereditary breast ovarian cancer syndrome 2022-04-24 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. 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: 1002158). 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 glutamic acid, which is acidic and polar, at codon 2640 of the BRCA2 protein (p.Lys2640Glu).
Ambry Genetics RCV003355364 SCV004052602 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-18 criteria provided, single submitter clinical testing The p.K2640E variant (also known as c.7918A>G), located in coding exon 16 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7918. The lysine at codon 2640 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well 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.
GeneDx RCV004770014 SCV005378623 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 8146A>G; This variant is associated with the following publications: (PMID: 12228710)

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