Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000496783 | SCV000759228 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2017-08-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. 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). 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. |
Research Molecular Genetics Laboratory, |
RCV000496783 | SCV000587926 | pathogenic | Hereditary breast ovarian cancer syndrome | 2014-01-31 | no assertion criteria provided | research |