ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3921_3924del (p.Ile1307fs) (rs863224457)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197818 SCV000253731 pathogenic Familial adenomatous polyposis 1 2016-05-20 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides in exon 16 of the APC mRNA (c.3921_3924delAAAA), causing a frameshift at codon 1307. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Ile1307Metfs*13). 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 previously reported in three families affected with Familial Adenomatous Polyposis (PMID: 14729851, 19029688, 26163615). For these reasons, this variant has been classified as Pathogenic.

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