Submissions for variant NM_000038.6(APC):c.*2AG[4]

dbSNP: rs758692443

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Color Diagnostics, LLC DBA Color Health	RCV001181202	SCV001346302	uncertain significance	Hereditary cancer-predisposing syndrome	2022-01-03	criteria provided, single submitter	clinical testing	This variant is located in the 3' untranslated region of APC gene. To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 2/250204 chromosomes in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
GeneDx	RCV001712872	SCV001944113	likely benign	not provided	2019-10-08	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV001712872	SCV002774088	uncertain significance	not provided	2024-11-16	criteria provided, single submitter	clinical testing	The APC c.*6_*7dup variant has not been reported in individuals with APC-related conditions in the published literature. The frequency of this variant in the general population, 0.000008 (2/250204 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Based on the available information, we are unable to determine the clinical significance of this variant.
Myriad Genetics, Inc.	RCV004789425	SCV005406858	benign	Familial adenomatous polyposis 1	2024-09-30	criteria provided, single submitter	clinical testing	This variant is considered benign. This variant occurs in the non-coding 3' untranslated region of the gene, and is not expected to impact protein function.
PreventionGenetics, part of Exact Sciences	RCV003928776	SCV004744362	likely benign	APC-related disorder	2019-10-07	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).