ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) (rs201830995)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3DMed Clinical Laboratory Inc RCV000677754 SCV000803910 uncertain significance Carcinoma of colon 2017-07-24 no assertion criteria provided clinical testing
Ambry Genetics RCV000129096 SCV000183807 likely benign Hereditary cancer-predisposing syndrome 2017-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Co-occurence with a mutation in another gene that clearly explains a proband's phenotype,Other data supporting benign classification
Color RCV000129096 SCV000537434 likely benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000239305 SCV000297020 benign Familial multiple polyposis syndrome 2015-07-30 criteria provided, single submitter clinical testing
GeneDx RCV000120025 SCV000209516 likely benign not specified 2017-11-24 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.
ITMI RCV000120025 SCV000084156 not provided not specified 2013-09-19 no assertion provided reference population
Integrated Genetics/Laboratory Corporation of America RCV000590345 SCV000694034 likely benign not provided 2016-12-16 criteria provided, single submitter clinical testing Variant summary: The APC c.3511C>T (p.Arg1171Cys) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 38/120476 control chromosomes (1 homozygote), predominantly observed in the Latino subpopulation at a frequency of 0.0014724 (17/11546). This frequency is about 21 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 Latino origin. This variant has been reported in an affected individual with no evidence for causality, and authors classified this variant as polymorphism. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign. Taken together, this variant is classified as likely benign.
Invitae RCV000196848 SCV000252918 benign Familial adenomatous polyposis 1 2017-12-29 criteria provided, single submitter clinical testing
Mendelics RCV000196848 SCV000838108 likely benign Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing
PreventionGenetics RCV000590345 SCV000805397 likely benign not provided 2017-02-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000590345 SCV000888734 benign not provided 2017-08-08 criteria provided, single submitter clinical testing

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