ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3260_3263dup (p.Lys1088fs)

dbSNP: rs2149888223
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
Department of Pathology and Laboratory Medicine, Sinai Health System RCV001357052 SCV001552381 pathogenic Familial adenomatous polyposis 1 no assertion criteria provided clinical testing The APC p.Lys1088Asnfs*32 variant was not identified in the literature nor was it identified in the dbSNP, ClinVar, COGR, Cosmic, LOVD 3.0, UMD-LSDB, Zhejiang University, the Exome Aggregation Consortium (August 8th 2016), or the Genome Aggregation Database (Feb 27, 2017). The c.3260_3263dup variant is predicted to cause a frameshift, which alters the protein's amino acid sequence beginning at codon 1088 and leads to a premature stop codon at position 1119. This alteration is then predicted to result in a truncated or absent protein and loss of function. Loss of function variants of the APC gene are an established mechanism of disease in APC associated cancers and is the type of variant expected to cause the disorder. One individual from our laboratory was identified with this variant and a clinical diagnosis of FAP. In summary, based on the above information this variant meets our laboratory’s criteria to be 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.