Submissions for variant NM_000038.6(APC):c.7986G>A (p.Glu2662=)

gnomAD frequency: 0.00005  dbSNP: rs571645304

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000163688	SCV000214262	likely benign	Hereditary cancer-predisposing syndrome	2014-10-20	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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	RCV000234782	SCV000282837	likely benign	Familial adenomatous polyposis 1	2025-01-06	criteria provided, single submitter	clinical testing
Counsyl	RCV000234782	SCV000488869	likely benign	Familial adenomatous polyposis 1	2016-07-09	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000163688	SCV000681899	likely benign	Hereditary cancer-predisposing syndrome	2016-11-28	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000779708	SCV000916463	likely benign	not specified	2019-08-20	criteria provided, single submitter	clinical testing
GeneDx	RCV001354670	SCV001835413	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000163688	SCV002531448	likely benign	Hereditary cancer-predisposing syndrome	2021-05-10	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV001354670	SCV002821309	likely benign	not provided	2022-11-01	criteria provided, single submitter	clinical testing	APC: BP4, BP7
Myriad Genetics, Inc.	RCV000234782	SCV004018532	benign	Familial adenomatous polyposis 1	2023-02-17	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.
All of Us Research Program, National Institutes of Health	RCV003995271	SCV004835746	likely benign	Classic or attenuated familial adenomatous polyposis	2024-02-05	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001354670	SCV005623739	uncertain significance	not provided	2024-10-23	criteria provided, single submitter	clinical testing	The APC c.7986G>A (p.Glu2662=) synonymous variant has not been reported as a germline variant in individuals with APC-related conditions in the published literature. The frequency of this variant in the general population, 0.000044 (5/113566 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using software algorithms for the prediction of the effect of nucleotide changes on splicing yielded predictions that this variant does not affect APC mRNA splicing. Based on the available information, we are unable to determine the clinical significance of this variant.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001354670	SCV001549342	uncertain significance	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003937493	SCV004754105	likely benign	APC-related disorder	2019-10-25	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).