Submissions for variant NM_007294.4(BRCA1):c.1015A>G (p.Lys339Glu)

gnomAD frequency: 0.00001  dbSNP: rs55842957

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000417490	SCV000517462	uncertain significance	not provided	2019-11-22	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 31131967)
Color Diagnostics, LLC DBA Color Health	RCV000776162	SCV000911225	benign	Hereditary cancer-predisposing syndrome	2016-07-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001085581	SCV001012828	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-11	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000417490	SCV001133472	uncertain significance	not provided	2018-11-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000776162	SCV001178022	uncertain significance	Hereditary cancer-predisposing syndrome	2023-09-14	criteria provided, single submitter	clinical testing	The p.K339E variant (also known as c.1015A>G), located in coding exon 9 of the BRCA1 gene, results from an A to G substitution at nucleotide position 1015. The lysine at codon 339 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.
CeGaT Center for Human Genetics Tuebingen	RCV000417490	SCV001747810	uncertain significance	not provided	2021-04-01	criteria provided, single submitter	clinical testing
University of Washington Department of Laboratory Medicine, University of Washington	RCV000776162	SCV003846231	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).
All of Us Research Program, National Institutes of Health	RCV000083015	SCV004818382	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-11-28	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000083015	SCV000115089	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2012-03-23	no assertion criteria provided	clinical testing