ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)

dbSNP: rs1597460545
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 RCV000800175 SCV000939875 pathogenic KBG syndrome 2018-11-08 criteria provided, single submitter clinical testing Loss-of-function variants in ANKRD11 are known to be pathogenic (PMID: 21782149, 25125236, 25413698, 25652421). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ANKRD11-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn819*) in the ANKRD11 gene. It is expected to result in an absent or disrupted protein product.
3billion RCV000800175 SCV002012343 pathogenic KBG syndrome 2021-10-02 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through protein truncation. Multiple pathogenic variants are reported in the predicted truncated region (PVS1_S).It is not observed in the gnomAD v2.1.1 dataset (PM2). The variant was observed as assumed (i.e. paternity and maternity not confirmed) de novoo (3billion dataset, PM6). The variant has been reported as pathogenic (ClinVar ID: 645982).Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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.