ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2098_2117delinsGCA (p.Leu700fs)

dbSNP: rs1555282448
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000528553 SCV000635203 pathogenic Hereditary breast ovarian cancer syndrome 2017-07-19 criteria provided, single submitter clinical testing Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BRCA2-related disease. This variant, c.2098_2117delinsGCA, is a complex sequence change that causes a frameshift at codon 700. This creates a premature translational stop signal (p.Leu700Alafs*2) and is expected to result in an absent or disrupted protein product.

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.