Submissions for variant NM_007294.4(BRCA1):c.4840C>T (p.Pro1614Ser)

gnomAD frequency: 0.00065  dbSNP: rs70953660

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000112411	SCV000244370	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 = 0.0000000000703
Invitae	RCV000167771	SCV000076689	benign	Hereditary breast ovarian cancer syndrome	2024-01-12	criteria provided, single submitter	clinical testing
GeneDx	RCV000048676	SCV000209978	benign	not specified	2014-08-04	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.
Ambry Genetics	RCV000162988	SCV000213476	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.
PreventionGenetics, part of Exact Sciences	RCV000048676	SCV000806962	benign	not specified	2016-11-22	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162988	SCV000902788	benign	Hereditary cancer-predisposing syndrome	2015-12-08	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001811342	SCV001472381	benign	not provided	2021-03-24	criteria provided, single submitter	clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State	RCV000167771	SCV002025925	likely benign	Hereditary breast ovarian cancer syndrome	2022-04-19	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000048676	SCV002067647	likely benign	not specified	2020-08-17	criteria provided, single submitter	clinical testing
Genetics Program, Instituto Nacional de Cancer	RCV000167771	SCV002515218	likely benign	Hereditary breast ovarian cancer syndrome	2021-11-01	criteria provided, single submitter	research
Sema4, Sema4	RCV000162988	SCV002537792	benign	Hereditary cancer-predisposing syndrome	2021-04-08	criteria provided, single submitter	curation
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003492390	SCV004240272	likely benign	Breast and/or ovarian cancer	2022-08-08	criteria provided, single submitter	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112411	SCV000145195	benign	Breast-ovarian cancer, familial, susceptibility to, 1	2004-02-20	no assertion criteria provided	clinical testing