Submissions for variant NM_000059.4(BRCA2):c.2152G>A (p.Glu718Lys)

dbSNP: rs397507281

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Michigan Medical Genetics Laboratories, University of Michigan	RCV000031356	SCV000267750	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2016-04-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000462341	SCV000560488	likely benign	Hereditary breast ovarian cancer syndrome	2024-08-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000571025	SCV000666098	uncertain significance	Hereditary cancer-predisposing syndrome	2024-08-04	criteria provided, single submitter	clinical testing	The p.E718K variant (also known as c.2152G>A), located in coding exon 10 of the BRCA2 gene, results from a G to A substitution at nucleotide position 2152. The glutamic acid at codon 718 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.
Color Diagnostics, LLC DBA Color Health	RCV000571025	SCV000688745	uncertain significance	Hereditary cancer-predisposing syndrome	2019-04-17	criteria provided, single submitter	clinical testing
GeneDx	RCV001588835	SCV001824862	uncertain significance	not provided	2023-05-08	criteria provided, single submitter	clinical testing	Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 2380G>A; This variant is associated with the following publications: (PMID: 31911673)
Sema4, Sema4	RCV000571025	SCV002533299	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-16	criteria provided, single submitter	curation
University of Washington Department of Laboratory Medicine, University of Washington	RCV000571025	SCV003846533	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)	RCV000031356	SCV000053961	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2012-02-10	no assertion criteria provided	clinical testing