Submissions for variant NM_000059.4(BRCA2):c.652G>T (p.Glu218Ter)

dbSNP: rs80358884

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)	RCV000077377	SCV000300341	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2016-09-08	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
GeneDx	RCV001568953	SCV001792916	pathogenic	not provided	2019-09-25	criteria provided, single submitter	clinical testing	Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed in large population cohorts (Lek et al., 2016); Truncating variants in this gene are considered pathogenic by a well-established clinical consortium and/or database; Has not been previously published as pathogenic or benign to our knowledge; Also known as BRCA2 880G>T
Sharing Clinical Reports Project (SCRP)	RCV000077377	SCV000109174	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2011-02-08	no assertion criteria provided	clinical testing
Breast Cancer Information Core (BIC) (BRCA2)	RCV000077377	SCV000147408	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2003-12-23	no assertion criteria provided	clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496596	SCV000587559	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research