Submissions for variant NM_000038.6(APC):c.5034G>A (p.Gly1678=)

gnomAD frequency: 0.59504  dbSNP: rs42427

Total submissions: 18

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000035074	SCV000109825	benign	not specified	2016-03-16	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000162373	SCV000212683	benign	Hereditary cancer-predisposing syndrome	2014-10-21	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.
PreventionGenetics, part of Exact Sciences	RCV000035074	SCV000301596	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000390083	SCV000452019	benign	APC-Associated Polyposis Disorders	2018-01-13	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.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001527958	SCV000602516	benign	not provided	2024-11-27	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV003315553	SCV000647553	benign	Familial adenomatous polyposis 1	2025-02-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162373	SCV000681702	benign	Hereditary cancer-predisposing syndrome	2016-03-18	criteria provided, single submitter	clinical testing
GeneDx	RCV001527958	SCV001739108	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV003315553	SCV004017449	benign	Familial adenomatous polyposis 1	2023-07-07	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035074	SCV000058714	benign	not specified	2008-03-01	no assertion criteria provided	clinical testing
Systems Biology Platform Zhejiang California International NanoSystems Institute	RCV000074235	SCV000105828	cancer	Familial colorectal cancer		no assertion criteria provided	not provided	Converted during submission to other.
Mayo Clinic Laboratories, Mayo Clinic	RCV000035074	SCV000257008	benign	not specified		no assertion criteria provided	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001353674	SCV000591186	benign	Carcinoma of colon		no assertion criteria provided	clinical testing	The c.5034G>A, p.Gly1678Gly silent variant, located in exon 14 of APC, is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction, is listed in dbSNP (rs_id: rs42427) as a common polymorphism. Based on the above information, this is a benign variant.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000035074	SCV001742719	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035074	SCV001923632	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035074	SCV001959691	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035074	SCV001968075	benign	not specified		no assertion criteria provided	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000162373	SCV002050304	benign	Hereditary cancer-predisposing syndrome	2021-12-21	no assertion criteria provided	clinical testing