ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5299A>G (p.Lys1767Glu)

dbSNP: rs1555284159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507489 SCV000600638 uncertain significance not specified 2017-06-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV001023882 SCV001185819 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-16 criteria provided, single submitter clinical testing The p.K1767E variant (also known as c.5299A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 5299. The lysine at codon 1767 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, 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001023882 SCV003847151 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).

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