ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2847G>T (p.Met949Ile) (rs147394539)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000159544 SCV000209508 likely benign not specified 2017-12-07 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.
Invitae RCV000168133 SCV000218792 benign Familial adenomatous polyposis 1 2018-01-12 criteria provided, single submitter clinical testing
Counsyl RCV000168133 SCV000488505 uncertain significance Familial adenomatous polyposis 1 2016-04-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000567920 SCV000667228 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other strong data supporting benign classification
Mendelics RCV000168133 SCV000838095 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
Color RCV000567920 SCV000902832 likely benign Hereditary cancer-predisposing syndrome 2016-05-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000159544 SCV000918467 uncertain significance not specified 2018-01-08 criteria provided, single submitter clinical testing Variant summary: The APC c.2847G>T (p.Met949Ile) variant involves the alteration of a conserved nucleotide and is predicted to be benign by 3/3 in silico tools (SNPsandGO and Mutation Taster not captured due to low reliability index). This variant was found in 11/276582 control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.000416 (10/24026). This frequency is about 6 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this is possibly a benign polymorphism found primarily in the populations of African origin. This variant has been reported in one patient with colorectal adenoma without strong evidence for causality (Azzopard_2008). Multiple clinical diagnostic laboratories/reputable databases in ClinVar have classified this variant as likely benign(2), benign(1) or variant of uncertain significance(2). Taken together, this variant is classified as variant of uncertain significance-possibly benign.
CSER_CC_NCGL; University of Washington Medical Center RCV000148363 SCV000190055 uncertain significance Colorectal adenoma 2014-06-01 no assertion criteria provided research

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.