Submissions for variant NM_007294.4(BRCA1):c.5566C>T (p.Pro1856Ser)

gnomAD frequency: 0.00001  dbSNP: rs80357274

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000049054	SCV000077067	likely benign	Hereditary breast ovarian cancer syndrome	2022-11-24	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000131973	SCV000187031	likely benign	Hereditary cancer-predisposing syndrome	2015-04-14	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	RCV000131973	SCV000908973	likely benign	Hereditary cancer-predisposing syndrome	2018-05-03	criteria provided, single submitter	clinical testing
GeneDx	RCV001570063	SCV001794266	likely benign	not provided	2021-03-22	criteria provided, single submitter	clinical testing	Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 20516115, 30257991, 30765603, 28781887, 33552952, 31131967, 17305420, 17453335, 12142080)
Sharing Clinical Reports Project (SCRP)	RCV000077629	SCV000109432	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2012-07-09	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA1)	RCV000077629	SCV000145581	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 1	2004-02-20	no assertion criteria provided	clinical testing