ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3469_3470GA[4] (p.Pro1159fs) (rs786203020)

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 RCV000646311 SCV000768079 pathogenic Familial adenomatous polyposis 1 2018-06-26 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Pro1159Aspfs*7). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1,685 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with breast cancer and polyposis (PMID: 26681312). Several different truncations downstream of this variant (p.Asn1979Thrfs*64, p.Glu1985Leufs*58, p.Tyr2645Lysfs*14) have been reported in individuals affected with familial adenomatous polyposis, and have been determined to be pathogenic (PMID: 20434453, 9824584, 20223039, 1316610, 22135120). This suggests that deletion of the C-terminal portion of the APC protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000581546 SCV000691737 pathogenic not provided no assertion criteria provided clinical testing

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.