ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7667del (p.Asn2556fs)

dbSNP: rs878853303
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 RCV001242063 SCV001415125 pathogenic Hereditary breast ovarian cancer syndrome 2019-11-14 criteria provided, single submitter clinical testing 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 not been reported in the literature in individuals with BRCA2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn2556Metfs*92) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product.
Genomic Center, National Cancer Institute RCV001310061 SCV001499584 pathogenic Familial cancer of breast no assertion criteria provided case-control

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.