Submissions for variant NM_000038.6(APC):c.7704A>G (p.Gly2568=)

gnomAD frequency: 0.02992  dbSNP: rs35043160

Total submissions: 21

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035083	SCV000058723	benign	not specified	2011-03-29	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000035083	SCV000109832	benign	not specified	2013-10-23	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000128887	SCV000172744	benign	Hereditary cancer-predisposing syndrome	2014-11-19	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	RCV000035083	SCV000301606	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000364239	SCV000452047	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756996	SCV000562618	benign	Familial adenomatous polyposis 1	2025-02-04	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000128887	SCV000681883	benign	Hereditary cancer-predisposing syndrome	2016-03-18	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001650857	SCV000885013	benign	not provided	2021-03-19	criteria provided, single submitter	clinical testing
GeneDx	RCV001650857	SCV001870045	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000035083	SCV002550662	benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000128887	SCV004014877	benign	Hereditary cancer-predisposing syndrome	2023-02-14	criteria provided, single submitter	clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center	RCV000756996	SCV004017694	benign	Familial adenomatous polyposis 1	2023-07-07	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV000756996	SCV005084444	benign	Familial adenomatous polyposis 1	2024-04-10	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	RCV000756996	SCV000591214	benign	Familial adenomatous polyposis 1		no assertion criteria provided	clinical testing	The p.Gly2568Gly variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. This variant was not identified in the literature, nor was it identified in the HGMD, UMD or LOVD databases. This variant was reported in dbSNP (ID#rs35043160), in the 1000 Genomes Project with a frequency of 0.027, and in the Exome Variant Server ESP Project with frequencies of 0.0002 in European American alleles and 0.097 in African American alleles, increasing the likelihood that this is a low frequency benign variant in certain populations of origin. In summary, based on the above information, this variant is classified as benign.
Mayo Clinic Laboratories, Mayo Clinic	RCV000035083	SCV000691767	benign	not specified		no assertion criteria provided	clinical testing
True Health Diagnostics	RCV000128887	SCV000693493	likely benign	Hereditary cancer-predisposing syndrome	2017-10-25	no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000035083	SCV001808471	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035083	SCV001919055	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035083	SCV001954299	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000035083	SCV001974332	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000035083	SCV002036734	benign	not specified		no assertion criteria provided	clinical testing