ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4591_4592dup (p.Asn1531fs)

dbSNP: rs1765716533
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
Labcorp Genetics (formerly Invitae), Labcorp RCV003771251 SCV001584352 pathogenic Familial adenomatous polyposis 1 2015-01-02 criteria provided, single submitter clinical testing This sequence change inserts 2 nucleotides in exon 16 of the APC mRNA (c.4591_4592dupAA), causing a frameshift at codon 1531. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Asn1531Lysfs*35). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein lacking 1308 C-terminal amino acid residues. Truncating sequence changes in APC are known to be pathogenic. This particular truncation has been reported in the literature in a patient affected with FAP (PMID: 23159591). For these reasons, this sequence change 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.