ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7931_7937del (p.Ile2644fs) (rs886039639)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255082 SCV000322567 likely pathogenic not provided 2016-05-17 criteria provided, single submitter clinical testing This deletion of 7 nucleotides in APC is denoted c.7931_7937delTTTATCA at the cDNA level and p.Ile2644LysfsX14 (I2644KfsX14) at the protein level. The normal sequence, with the bases that are deleted in braces, is CTAA[TTTATCA]AATG. The deletion causes a frameshift which changes an Isoleucine to a Lysine at codon 2644, and creates a premature stop codon at position 14 of the new reading frame. Even though this frameshift occurs in the last exon of the gene, and nonsense-mediated decay is not expected to occur, it is significant since the last 200 amino acids are replaced by 13 incorrect amino acids. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. Based on the currently available information, we consider this deletion to be a likely pathogenic variant.
Ambry Genetics RCV001026970 SCV001189453 pathogenic Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)

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.