ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1380del (p.Glu461fs)

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
Ambry Genetics RCV004520928 SCV005036806 pathogenic Hereditary cancer-predisposing syndrome 2023-11-30 criteria provided, single submitter clinical testing The c.1380delA pathogenic mutation, located in coding exon 10 of the APC gene, results from a deletion of one nucleotide at nucleotide position 1380, causing a translational frameshift with a predicted alternate stop codon (p.E461Sfs*6). This alteration has been observed in at least one individual with a personal and/or family history that is consistent with APC-related disease (Ambry internal data). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Juno Genomics, Hangzhou Juno Genomics, Inc RCV004796867 SCV005416680 pathogenic Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach criteria provided, single submitter clinical testing PVS1+PM2_Supporting+PP4

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.