Submissions for variant NM_000059.4(BRCA2):c.4591A>G (p.Lys1531Glu)

dbSNP: rs1555283865

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000769694	SCV000901109	uncertain significance	Breast and/or ovarian cancer	2021-08-30	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002334431	SCV002636324	uncertain significance	Hereditary cancer-predisposing syndrome	2021-05-18	criteria provided, single submitter	clinical testing	The p.K1531E variant (also known as c.4591A>G), located in coding exon 10 of the BRCA2 gene, results from an A to G substitution at nucleotide position 4591. The lysine at codon 1531 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.
University of Washington Department of Laboratory Medicine, University of Washington	RCV002334431	SCV003850638	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).