ClinVar Miner

Submissions for variant NM_001330368.2(C11orf65):c.640+20516del (rs1591387383)

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
MVZ Praenatalmedizin und Genetik Nuernberg RCV000856599 SCV000999072 likely pathogenic Familial cancer of breast 2019-03-31 no assertion criteria provided clinical testing GnomAD shows no entry for this variant (very rare or private variant). This frameshift-variant results in a premature stop-codon in exon 63. Since this is the last exon of ATM we do not expect nonsense mediated decay. However ClinVar lists several nonsense mutations further downstream (e.g. p.Ser3027Lysfs, p.Arg3047Ter, p. Phe3049Profs) with likely-pathogenic/pathogenic classification. For one of these variants functional analyses showed effects on ATM kinase activity (PMID: 19431188). Taken together, we classify this variant as likely pathogenic.

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.