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

gnomAD frequency: 0.00308  dbSNP: rs143927847

Total submissions: 24

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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004019525	SCV000252585	benign	Familial adenomatous polyposis 1	2025-02-04	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	2024-10-01	criteria provided, single submitter	clinical testing	APC: BP4, BP7
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