ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2232T>G (p.Ser744=) (rs145751759)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000163199 SCV000213721 likely benign Hereditary cancer-predisposing syndrome 2014-09-24 criteria provided, single submitter clinical testing
GeneDx RCV000439758 SCV000512068 benign not specified 2015-07-02 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 RCV000590422 SCV000562574 likely benign not provided 2019-02-26 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000439758 SCV000602520 likely benign not specified 2016-10-18 criteria provided, single submitter clinical testing
Color RCV000163199 SCV000681509 likely benign Hereditary cancer-predisposing syndrome 2016-03-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000590422 SCV000694011 benign not provided 2016-07-01 criteria provided, single submitter clinical testing Variant summary: The APC c.2232T>G (p.Ser744Ser) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant, and 1/5 splicing algorithms predict the loss of a cryptic splicing acceptor site. The variant of interest has not, to our knowledge, been evaluated for functional impact by in vivo/vitro studies. This variant was found in 10/120424 control chromosomes, predominantly observed in the African subpopulation at a frequency of 0.0009762 (10/10244). This frequency is about 14 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000714), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, one clinical diagnostic laboratory classified this variant as likely benign. Taken together, this variant is classified as Benign.
Counsyl RCV000462393 SCV000785981 likely benign Familial adenomatous polyposis 1 2018-01-29 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000590422 SCV000861179 uncertain significance not provided 2018-05-25 criteria provided, single submitter clinical testing
Mendelics RCV000462393 SCV001136890 likely benign Familial adenomatous polyposis 1 2019-05-28 criteria provided, single submitter clinical testing

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