Submissions for variant NM_000059.4(BRCA2):c.7980T>A (p.Tyr2660Ter)

dbSNP: rs397507949

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA)	RCV000661558	SCV000783850	pathogenic	Breast-ovarian cancer, familial, susceptibility to, 2	2017-12-15	reviewed by expert panel	curation	Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496310	SCV002156511	pathogenic	Hereditary breast ovarian cancer syndrome	2021-06-28	criteria provided, single submitter	clinical testing	For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA2-related conditions. ClinVar contains an entry for this variant (Variation ID: 431339). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr2660*) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584).
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496310	SCV000587927	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research