ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6190A>G (p.Lys2064Glu)

dbSNP: rs1593907793
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985560 SCV001133855 uncertain significance not provided 2019-04-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV001180446 SCV001345379 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-05 criteria provided, single submitter clinical testing This missense variant replaces lysine with glutamic acid at codon 2064 of the BRCA2 protein. Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BRCA2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
University of Washington Department of Laboratory Medicine, University of Washington RCV001180446 SCV003852303 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 RCV001180446 SCV003855579 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-20 criteria provided, single submitter clinical testing The p.K2064E variant (also known as c.6190A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 6190. The lysine at codon 2064 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. 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.

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