Submissions for variant NM_007294.4(BRCA1):c.4026A>G (p.Ser1342=)

dbSNP: rs80356828

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)	RCV000112226	SCV000578094	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/).
Counsyl	RCV000112226	SCV000487787	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2015-12-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001021701	SCV001183349	likely benign	Hereditary cancer-predisposing syndrome	2019-03-31	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001421144	SCV001623663	likely benign	Hereditary breast ovarian cancer syndrome	2024-04-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV001021701	SCV002538253	likely benign	Hereditary cancer-predisposing syndrome	2020-10-19	criteria provided, single submitter	curation
Breast Cancer Information Core (BIC) (BRCA1)	RCV000112226	SCV000144936	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2000-01-01	no assertion criteria provided	clinical testing