ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1760C>A (p.Thr587Lys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002407602 SCV002716737 uncertain significance Hereditary cancer-predisposing syndrome 2020-09-28 criteria provided, single submitter clinical testing The p.T587K variant (also known as c.1760C>A), located in coding exon 9 of the BRCA2 gene, results from a C to A substitution at nucleotide position 1760. The threonine at codon 587 is replaced by lysine, 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 RCV002407602 SCV003851617 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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