ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) (rs121913331)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000491362 SCV000579776 pathogenic Hereditary cancer-predisposing syndrome 2016-12-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Database of Curated Mutations (DoCM) RCV000424284 SCV000504997 likely pathogenic Neoplasm of the large intestine 2015-07-14 no assertion criteria provided literature only
Database of Curated Mutations (DoCM) RCV000434269 SCV000504998 likely pathogenic Lung adenocarcinoma 2015-07-14 no assertion criteria provided literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000501152 SCV000591137 pathogenic Familial adenomatous polyposis 2015-08-31 criteria provided, single submitter clinical testing
Invitae RCV000228687 SCV000282738 pathogenic Familial adenomatous polyposis 1 2018-12-18 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the APC mRNA at codon 1114 (p.Arg1114*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1730 amino acids of the APC protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in patients affected with familial adenomatous polyposis (FAP) and attenuated FAP (PMID: 1338764, 20685668, 20223039, 16134147). ClinVar contains an entry for this variant (Variation ID: 236589). Many truncation downstream of this variant has been determined to be pathogenic (PMID: 20223039, 1316610, 23159591, 24664542). This suggests that deletion of this region of the APC protein is causative of disease. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). For these reasons, this variant has been classified as Pathogenic.

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