ClinVar Miner

Submissions for variant NM_007194.3:c.966_967insSVA

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
Ambry Genetics RCV002386961 SCV002694212 likely pathogenic Hereditary cancer-predisposing syndrome 2021-06-21 criteria provided, single submitter clinical testing The c.966_967insSVA likely pathogenic variant results from the insertion of a SVA element between nucleotides 966 and 967 in coding exon 8 of the CHEK2 gene. Mobile element insertions contribute to pathogenicity by either disrupting the coding sequence or inducing aberrant splicing (Belancio VP et al. Semin. Cancer Biol. 2010 Aug;20:200-10; Deininger P et al. Genome Biol. 2011 Dec;12:236; van der Klift HM. Hum Mutat. 2012 Jul;33(7):1051-5). Based on the majority of available evidence to date, this variant is likely to be 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.