Submissions for variant NM_000059.4(BRCA2):c.1342C>T (p.Arg448Cys)

gnomAD frequency: 0.00001  dbSNP: rs80358422

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000203634	SCV000071798	likely benign	Hereditary breast ovarian cancer syndrome	2024-09-18	criteria provided, single submitter	clinical testing
GeneDx	RCV000043785	SCV000210267	uncertain significance	not provided	2023-09-06	criteria provided, single submitter	clinical testing	Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as 1570C>T; This variant is associated with the following publications: (PMID: 11802209, 32377563, 29884841, 31131967, 30254663, 35150867, 36011273, 31911673, 35127508, 32438681, 30287823, 36243179)
Ambry Genetics	RCV000165318	SCV000216040	likely benign	Hereditary cancer-predisposing syndrome	2020-06-17	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.
Counsyl	RCV000077254	SCV000488126	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2016-02-19	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000077254	SCV000744408	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2015-09-21	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000165318	SCV000911819	benign	Hereditary cancer-predisposing syndrome	2016-06-14	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000165318	SCV002533225	uncertain significance	Hereditary cancer-predisposing syndrome	2022-01-06	criteria provided, single submitter	curation
University of Washington Department of Laboratory Medicine, University of Washington	RCV000165318	SCV003850015	likely benign	Hereditary cancer-predisposing syndrome	2023-03-23	criteria provided, single submitter	curation	Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).
Sharing Clinical Reports Project (SCRP)	RCV000077254	SCV000109051	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2011-12-19	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000077254	SCV000145855	uncertain significance	Breast-ovarian cancer, familial, susceptibility to, 2	2004-02-20	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000077254	SCV000733228	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2		no assertion criteria provided	clinical testing
Department of Medical and Surgical Sciences, University of Bologna	RCV000077254	SCV004228372	likely benign	Breast-ovarian cancer, familial, susceptibility to, 2	2023-09-01	no assertion criteria provided	clinical testing	PP4(Moderate)+BP1(Strong) according to ACMG/AMP classification guidelines specified for BRCA1 & BRCA2 (Classification Criteria V1.0.0 2023-09-08 - https://cspec.genome.network/cspec/ui/svi/affiliation/50087) (PMID: 38160042)