Submissions for variant NM_000059.4(BRCA2):c.7977-3_7977-2delinsAG

dbSNP: rs1135401921

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000496783	SCV000759228	likely pathogenic	Hereditary breast ovarian cancer syndrome	2017-08-19	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals with BRCA2-related disease. This sequence change affects the acceptor splice site in intron 17 of the BRCA2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto	RCV000496783	SCV000587926	pathogenic	Hereditary breast ovarian cancer syndrome	2014-01-31	no assertion criteria provided	research