ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7137C>G (p.Thr2379=) (rs141454910)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196610 SCV000252594 benign Familial adenomatous polyposis 1 2017-09-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000576148 SCV000667404 likely benign Hereditary cancer-predisposing syndrome 2015-05-28 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Synonymous alterations with insufficient evidence to classify as benign
Color RCV000576148 SCV000911743 likely benign Hereditary cancer-predisposing syndrome 2016-11-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000779728 SCV000916493 likely benign not specified 2018-07-02 criteria provided, single submitter clinical testing Variant summary: APC c.7137C>G alters a non-conserved nucleotide resulting in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant is found at a frequency of 0.0000326 (9/275826 control chromosomes) in the gnomAD database, and was exclusively observed in the African subpopulation at a frequency of 0.000375 (9/23978 African control chromosomes). This frequency in the African subpopulation is greater than 5-fold above the maximal expected allele frequency for a pathogenic variant in APC, suggesting that the variant is likely a benign polymorphism in African lineages. To our knowledge, no occurrence of c.7137C>G in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Two clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and both classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
GeneDx RCV000835178 SCV000976960 likely benign not provided 2018-03-29 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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.