ClinVar Miner

Submissions for variant NM_000038.6(APC):c.475dup (p.Tyr159fs) (rs863225361)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000202290 SCV000577237 pathogenic not provided 2017-04-06 criteria provided, single submitter clinical testing This duplication of one nucleotide in APC is denoted c.475dupT at the cDNA level and p.Tyr159LeufsX9 (Y159LfsX9) at the protein level. The normal sequence, with the base that is duplicated in brackets, is GTAT[dupT]ACGC. The duplication causes a frameshift, which changes a Tyrosine to a Leucine at codon 159, and creates a premature stop codon at position 9 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. We consider this variant to be pathogenic.
Ambry Genetics RCV000568959 SCV000667672 pathogenic Hereditary cancer-predisposing syndrome 2016-11-03 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)
Invitae RCV000694158 SCV000822589 pathogenic Familial adenomatous polyposis 1 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr159Leufs*9) in the APC gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 217990). Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000202290 SCV000257006 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.