ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2314del (p.Thr772fs) (rs878853426)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234542 SCV000282717 pathogenic Familial adenomatous polyposis 1 2016-01-02 criteria provided, single submitter clinical testing This sequence change deletes 1 nucleotide from exon 16 of the APC mRNA (c.2314delA), causing a frameshift at codon 772. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Thr772Leufs*5). While this is not anticipated to result in nonsense mediated decay, it is expected to result in a truncated APC protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in an individual with familial adenomatous polyposis (PMID: 10083733). This variant is located in the last coding exon of APC. However, other downstream, pathogenic truncating variants have been reported in exon 16 (PMID: 20223039, 11247896, 1316610) For these reasons, this variant has been classified as Pathogenic.

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