ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3090dup (p.Tyr1031fs) (rs1554084685)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541019 SCV000647425 pathogenic Familial adenomatous polyposis 1 2017-02-15 criteria provided, single submitter clinical testing This sequence change inserts 1 nucleotide in exon 16 of the APC mRNA (c.3090dupA), causing a frameshift at codon 1031. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Tyr1031Ilefs*4). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 1810 amino acids of the APC protein. Loss-of-function variants in APC are known to be pathogenic. This particular variant has been reported in the literature in individuals affected with familial adenomatous polyposis (FAP) (PMID: 19029688, 25832318). This variant is also known as c.3090_3091insA in the literature. For these reasons, this variant has been classified as Pathogenic.

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