ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2138C>G (p.Ser713Ter) (rs137854570)

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 RCV000491636 SCV000579811 pathogenic Hereditary cancer-predisposing syndrome 2018-07-17 criteria provided, single submitter clinical testing The p.S713* pathogenic mutation (also known as c.2138C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 2138. This changes the amino acid from a serine to a stop codon within coding exon 15. This alteration has been described in numerous individuals with adenomatous polyposis in the literature (Giarola M et al. Hum. Mutat. 1999; 13:116-23, Miyoshi Y et al. Proc. Natl. Acad. Sci. U.S.A. 1992; 89:4452-6, Nishisho I et al. Science 1991; 253:665-9). One such individual also had mandibular osteomas, consistent with the Gardner syndrome phenotype included in the FAP spectrum (Nishisho I et al. Science 1991; 253:665-9). In addition to the clinical data presented in the literature, 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.
OMIM RCV000000837 SCV000020987 pathogenic Gardner syndrome 1991-08-09 no assertion criteria provided literature only

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.