Submissions for variant NM_007294.4(BRCA1):c.133A>C (p.Lys45Gln)

gnomAD frequency: 0.00001  dbSNP: rs769650474

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)	RCV000191155	SCV000244300	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 = 0.0008
Ambry Genetics	RCV000162963	SCV000213451	benign	Hereditary cancer-predisposing syndrome	2014-11-18	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.
Counsyl	RCV000191155	SCV000489579	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2016-10-26	criteria provided, single submitter	clinical testing
GeneDx	RCV000438667	SCV000517092	likely benign	not specified	2017-09-08	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae	RCV000472379	SCV000560314	benign	Hereditary breast ovarian cancer syndrome	2024-01-10	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162963	SCV000911512	likely benign	Hereditary cancer-predisposing syndrome	2018-03-09	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001800475	SCV002047335	likely benign	not provided	2022-12-03	criteria provided, single submitter	clinical testing
Sharing Clinical Reports Project (SCRP)	RCV000191155	SCV000297585	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2011-01-31	no assertion criteria provided	clinical testing
Brotman Baty Institute, University of Washington	RCV000191155	SCV001237902	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro