Submissions for variant NM_007294.4(BRCA1):c.828A>G (p.Thr276=)

gnomAD frequency: 0.00019  dbSNP: rs186274774

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000495039	SCV000578378	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/).
Ambry Genetics	RCV000163549	SCV000214107	likely benign	Hereditary cancer-predisposing syndrome	2015-01-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
Invitae	RCV001081159	SCV000260415	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000474833	SCV000540976	benign	Familial cancer of breast	2017-02-23	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000758851	SCV000887738	likely benign	not provided	2023-07-20	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163549	SCV000911211	likely benign	Hereditary cancer-predisposing syndrome	2016-04-20	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001201292	SCV001372419	likely benign	not specified	2020-06-08	criteria provided, single submitter	clinical testing
GeneDx	RCV000758851	SCV001887272	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163549	SCV002537926	likely benign	Hereditary cancer-predisposing syndrome	2020-12-10	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV001201292	SCV002551040	likely benign	not specified	2023-08-15	criteria provided, single submitter	clinical testing