ClinVar Miner

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

gnomAD frequency: 0.00308  dbSNP: rs143927847
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Total submissions: 24
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) 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 This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae RCV003650366 SCV000252585 benign Familial adenomatous polyposis 1 2024-02-01 criteria provided, single submitter clinical testing
Illumina Laboratory Services, 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 Diagnostics, LLC DBA Color Health RCV000128969 SCV000681608 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000077989 SCV000805396 benign not specified 2017-03-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001310854 SCV001158624 benign not provided 2022-09-13 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001310854 SCV001500824 likely benign not provided 2024-04-01 criteria provided, single submitter clinical testing APC: BP4, BP7, BS1
Genetic Services Laboratory, University of Chicago RCV000077989 SCV002069701 benign not specified 2019-12-05 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000128969 SCV002533769 benign Hereditary cancer-predisposing syndrome 2020-07-31 criteria provided, single submitter curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000077989 SCV002550615 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV000128969 SCV004228043 benign Hereditary cancer-predisposing syndrome 2023-11-28 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000077989 SCV004847526 benign not specified 2022-01-31 criteria provided, single submitter clinical testing The p.Glu1157Glu variant in APC is classified as benign because it does not alter an amino acid residue, is not located within the splice consensus site, and computational splice prediction tools do not predict an impact on splicing. It has been identified in 0.54% (135/25068) of Finnish chromosomes, including 1 homozygote, by gnomAD (http://gnomad.broadinstitute.org). ACMG/AMP Criteria applied: BA1, BP4, BP7.
Myriad Genetics, Inc. RCV004019525 SCV004930996 benign Familial adenomatous polyposis 1 2024-03-18 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.
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
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001310854 SCV001953091 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000077989 SCV002034033 benign not specified no assertion criteria provided clinical testing

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