ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2133del (p.His712fs) (rs1060503321)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457802 SCV000552638 pathogenic Familial adenomatous polyposis 1 2016-08-30 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.2133delT), causing a frameshift at codon 712. This creates a premature translational stop signal in the last exon of the APC mRNA (p.His712Ilefs*6). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein by removing ~2125 amino acid residues (~75%) from the full length protein. While this particular variant has not been reported in the literature, loss-of-function variants in APC are known to be pathogenic (PMID: 20685668, 17963004). In addition, numerous pathogenic loss-of-function variants have been reported downstream of this variant (PMID: 20223039). For these reasons, this variant has been classified as Pathogenic.

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