ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2802_2805del (p.Tyr935fs) (rs1131691143)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000493587 SCV000581424 pathogenic Hereditary cancer-predisposing syndrome 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense),Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000500710 SCV000591117 pathogenic Familial adenomatous polyposis 2012-06-28 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000507509 SCV000600066 pathogenic not provided 2016-10-25 criteria provided, single submitter clinical testing
Color RCV000493587 SCV000686913 pathogenic Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV000700480 SCV000829237 pathogenic Familial adenomatous polyposis 1 2018-03-22 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the APC gene (p.Tyr935Ilefs*19). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1909 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals affected with familial adenomatous polyposis (FAP) (PMID: 9375853, 17411426, 21779980, 14961559). This variant is also known as 2800 Del4 and c.2800_2803delACTT in the literature. ClinVar contains an entry for this variant (Variation ID: 429056). A different truncation (p.Asn1979Thrfs*64) that lies downstream of this variant has been determined to be pathogenic (PMID: 9824584, 20434453, 26681312). This suggests that deletion of this region of the APC protein is causative of disease. For these reasons, this variant has been classified as 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.