Submissions for variant NM_000059.4(BRCA2):c.1184G>A (p.Trp395Ter)

dbSNP: rs886040347

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)	RCV000257484	SCV000323960	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	RCV000257484	SCV000326507	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2015-10-02	criteria provided, single submitter	clinical testing
Invitae	RCV000496427	SCV000827431	pathogenic	Hereditary breast ovarian cancer syndrome	2020-10-20	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Trp395*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant has been observed in an individual with a personal and/or family history of breast and/or ovarian cancer (PMID: 24549055). ClinVar contains an entry for this variant (Variation ID: 266612). This variant is not present in population databases (ExAC no frequency).
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496427	SCV000587581	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research
Laboratory for Genotyping Development, RIKEN	RCV003165708	SCV002758121	pathogenic	Gastric cancer	2021-07-01	no assertion criteria provided	research