ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.2099del (p.Gly700fs)

dbSNP: rs1553612184
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635770 SCV000757192 likely pathogenic Familial cancer of breast 2017-12-17 criteria provided, single submitter clinical testing This variant disrupts approximately 47% of the BRCT functional domain, which is encoded by amino acids 602-777. The entire BRCT domain is known to be required for chromosome stability and homology-directed repair of BARD1 protein (PMID: 17848578). 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. This variant has not been reported in the literature in individuals with BARD1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the BARD1 gene (p.Gly700Alafs*14). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 78 amino acids of the BARD1 protein.
Cancer Genetics Service, National Cancer Centre Singapore RCV000635770 SCV000920888 likely pathogenic Familial cancer of breast 2019-05-01 no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.