ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3471G>A (p.Glu1157=) (rs143927847)

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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000077989 SCV000109821 benign not specified 2013-06-25 criteria provided, single submitter clinical testing
GeneDx RCV000077989 SCV000167006 benign not specified 2014-01-15 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.
Ambry Genetics RCV000128969 SCV000172852 benign Hereditary cancer-predisposing syndrome 2014-12-02 criteria provided, single submitter clinical testing Internal frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
Invitae RCV000195873 SCV000252585 benign Familial adenomatous polyposis 1 2020-11-23 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000353083 SCV000452007 benign APC-Associated Polyposis Disorders 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Color Health, Inc RCV000128969 SCV000681608 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000077989 SCV000805396 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001283361 SCV001158624 benign none provided 2019-10-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001310854 SCV001500824 likely benign not provided 2021-01-01 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV001353847 SCV000591144 benign Carcinoma of colon no assertion criteria provided clinical testing The p.Glu1157Glu variant is listed in dbSNP database (ID#: rs143927847) with an average heterozygosity of 0.011+/-0.074 in the human population, therefore increasing the likelihood that this variant is benign. This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction. In summary, based on above information this variant is classified as Benign.
Mayo Clinic Laboratories, Mayo Clinic RCV000077989 SCV000691736 likely benign not specified no assertion criteria provided clinical testing
True Health Diagnostics RCV000128969 SCV000693479 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 no assertion criteria provided clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV001310854 SCV001743220 likely benign not provided no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000077989 SCV001799951 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000077989 SCV001809628 benign not specified no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000077989 SCV001925365 benign not specified no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV001310854 SCV001953091 likely benign not provided no assertion criteria provided clinical testing

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