ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1755G>T (p.Lys585Asn)

dbSNP: rs431825285
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002408611 SCV002716584 uncertain significance Hereditary cancer-predisposing syndrome 2015-11-12 criteria provided, single submitter clinical testing The p.K585N variant (also known as c.1755G>T), located in coding exon 9 of the BRCA2 gene, results from a G to T substitution at nucleotide position 1755. The lysine at codon 585 is replaced by asparagine, an amino acid with similar properties. This amino acid position is 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 p.K585N remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV002408611 SCV003851613 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).
Sharing Clinical Reports Project (SCRP) RCV000082890 SCV000114964 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 2 2010-02-24 no assertion criteria provided clinical testing

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