Submissions for variant NM_007294.4(BRCA1):c.4845T>C (p.Ala1615=)

gnomAD frequency: 0.00001  dbSNP: rs144588397

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)	RCV000495795	SCV000578400	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	RCV000163573	SCV000214132	likely benign	Hereditary cancer-predisposing syndrome	2016-02-16	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	RCV000205054	SCV000261539	likely benign	Hereditary breast ovarian cancer syndrome	2025-01-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163573	SCV000537487	likely benign	Hereditary cancer-predisposing syndrome	2015-07-22	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000587737	SCV000699179	likely benign	not specified	2019-08-21	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV000495795	SCV004817620	likely benign	Breast-ovarian cancer, familial, susceptibility to, 1	2023-04-03	criteria provided, single submitter	clinical testing