Submissions for variant NM_007294.4(BRCA1):c.42C>A (p.Val14=)

dbSNP: rs80356827

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000031164	SCV000578047	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2017-06-29	reviewed by expert panel	curation	Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
Labcorp Genetics (formerly Invitae), Labcorp	RCV002054529	SCV002364307	likely benign	Hereditary breast ovarian cancer syndrome	2023-10-15	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326712	SCV002629713	likely benign	Hereditary cancer-predisposing syndrome	2020-11-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Sharing Clinical Reports Project (SCRP)	RCV000031164	SCV000053764	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2009-02-17	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000031164	SCV000144113	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2003-12-23	no assertion criteria provided	clinical testing
Brotman Baty Institute, University of Washington	RCV000031164	SCV001237727	not provided	Breast-ovarian cancer, familial, susceptibility to, 1		no assertion provided	in vitro