Submissions for variant NM_000059.4(BRCA2):c.7974C>A (p.Tyr2658Ter)

dbSNP: rs80359025

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000256889	SCV000324603	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2016-10-18	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge	RCV000256889	SCV000327773	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-10-02	criteria provided, single submitter	clinical testing
Invitae	RCV000698665	SCV000827345	pathogenic	Hereditary breast ovarian cancer syndrome	2018-02-22	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Tyr2658*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 267045). Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
MGZ Medical Genetics Center	RCV002288952	SCV002581034	pathogenic	Familial cancer of breast	2022-08-08	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV002510834	SCV002822077	pathogenic	not provided	2022-11-01	criteria provided, single submitter	clinical testing	BRCA2: PVS1, PM2