ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2828C>G (p.Ser943Ter)

dbSNP: rs1554084512
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 RCV001016705 SCV001177691 pathogenic Hereditary cancer-predisposing syndrome 2019-03-20 criteria provided, single submitter clinical testing The p.S943* pathogenic mutation (also known as c.2828C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 2828. This changes the amino acid from a serine to a stop codon within coding exon 15. This alteration has been reported in several individuals with familial adenomatous polyposis (FAP) from diverse geographic regions in the literature (Gavert N et al. Hum. Mutat. 2002 Jun;19(6):664, Kimi DW et al. Hum. Mutat. 2005 Sep;26(3):281, Khan N et al. Sci. Rep., 2017 05;7:2214). In addition to the clinical data presented in the literature, since premature stop codons are typically deleterious in nature, 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.
Myriad Genetics, Inc. RCV003336247 SCV004045623 pathogenic Familial adenomatous polyposis 1 2023-05-05 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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.