Submissions for variant NM_007294.4(BRCA1):c.2757T>C (p.Pro919=)

gnomAD frequency: 0.00001  dbSNP: rs755516286

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)	RCV000495539	SCV000578365	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	RCV000221155	SCV000278286	likely benign	Hereditary cancer-predisposing syndrome	2015-09-02	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.
Color Diagnostics, LLC DBA Color Health	RCV000221155	SCV000683060	likely benign	Hereditary cancer-predisposing syndrome	2017-02-14	criteria provided, single submitter	clinical testing
Invitae	RCV000953876	SCV001100472	likely benign	Hereditary breast ovarian cancer syndrome	2024-01-27	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001284537	SCV001470377	likely benign	not provided	2019-09-21	criteria provided, single submitter	clinical testing
GeneDx	RCV001284537	SCV001888185	likely benign	not provided	2019-10-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 21165771)