Submissions for variant NM_007294.4(BRCA1):c.4991T>C (p.Leu1664Pro)

gnomAD frequency: 0.00001  dbSNP: rs80357314

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000031202	SCV000244377	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2015-08-10	reviewed by expert panel	curation	IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 1 based on posterior probability = 0.00000389
Invitae	RCV001081025	SCV000076744	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000758838	SCV000209982	likely benign	not provided	2018-03-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 28283652, 17308087, 20378548, 14534301, 20516115, 26727311, 21447777, 15172985, 24489791, 30209399)
Ambry Genetics	RCV000221221	SCV000278635	benign	Hereditary cancer-predisposing syndrome	2015-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758838	SCV000887707	likely benign	not provided	2018-03-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000221221	SCV001358819	likely benign	Hereditary cancer-predisposing syndrome	2019-04-02	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000031202	SCV000053802	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2012-05-01	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000031202	SCV000145255	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2002-05-29	no assertion criteria provided	clinical testing
Brotman Baty Institute, University of Washington	RCV000031202	SCV001243345	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro