ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5996del (p.Pro1999fs)

dbSNP: rs863225369
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002354571 SCV002657138 pathogenic Hereditary cancer-predisposing syndrome 2019-11-07 criteria provided, single submitter clinical testing The c.5996delC pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at nucleotide position 5996, causing a translational frameshift with a predicted alternate stop codon (p.P1999Qfs*45). This alteration has been identified in one family diagnosed with FAP (Su LK et al. Hum. Genet. 2000 Jan; 106(1):101-7). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003337250 SCV004045666 pathogenic Familial adenomatous polyposis 1 2023-05-15 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Mayo Clinic Laboratories, Mayo Clinic RCV000202028 SCV000257021 likely pathogenic not provided no assertion criteria provided research

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.