Submissions for variant NM_000038.6(APC):c.-43A>C

gnomAD frequency: 0.00011  dbSNP: rs879254014

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000235958	SCV000293182	uncertain significance	not provided	2018-02-26	criteria provided, single submitter	clinical testing	This variant is denoted APC c.-43A>C, and describes a nucleotide substitution 43 base pairs upstream of the APC ATG translational start site in the 5' untranslated region (UTR). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. APC c.-43A>C does not appear to affect the start codon or the Kozak translational consensus sequence. Although this variant is not predicted to affect splicing, the nucleotide which is altered is conserved in mammals. Based on currently available evidence, it is unclear whether APC c.-43A>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Mendelics	RCV000708948	SCV000838057	uncertain significance	Familial adenomatous polyposis 1	2018-07-02	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003955387	SCV004772035	likely benign	APC-related condition	2019-07-17	criteria provided, single submitter	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).