Submissions for variant NM_000059.4(BRCA2):c.2056C>T (p.Leu686Phe)

dbSNP: rs1135401896

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
University of Washington Department of Laboratory Medicine, University of Washington	RCV003157597	SCV003846479	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	RCV003157597	SCV004052539	uncertain significance	Hereditary cancer-predisposing syndrome	2023-07-13	criteria provided, single submitter	clinical testing	The p.L686F variant (also known as c.2056C>T), located in coding exon 10 of the BRCA2 gene, results from a C to T substitution at nucleotide position 2056. The leucine at codon 686 is replaced by phenylalanine, an amino acid with highly 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 this alteration remains unclear.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496597	SCV000587622	uncertain significance	not specified	2014-01-31	no assertion criteria provided	research