Submissions for variant NM_007294.4(BRCA1):c.2964A>G (p.Ser988=)

dbSNP: rs1064796061

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000478297	SCV000572454	uncertain significance	not provided	2023-05-07	criteria provided, single submitter	clinical testing	Not observed in any cases, but was observed in unaffected controls from a breast cancer study (Momozawa et al., 2018); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Also known as 3083A>G; This variant is associated with the following publications: (PMID: 30287823)
Ambry Genetics	RCV001017690	SCV001178811	likely benign	Hereditary cancer-predisposing syndrome	2015-10-21	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001174661	SCV001337877	likely benign	not specified	2020-01-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001017690	SCV001341497	likely benign	Hereditary cancer-predisposing syndrome	2018-06-13	criteria provided, single submitter	clinical testing
Invitae	RCV002063812	SCV002479616	likely benign	Hereditary breast ovarian cancer syndrome	2023-07-25	criteria provided, single submitter	clinical testing