ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3925_3928del (p.Glu1309fs) (rs876659647)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221539 SCV000276331 pathogenic Hereditary cancer-predisposing syndrome 2016-08-02 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)
Invitae RCV000232837 SCV000282748 pathogenic Familial adenomatous polyposis 1 2016-02-23 criteria provided, single submitter clinical testing This sequence change deletes 4 nucleotides from exon 16 of the APC mRNA (c.3925_3928delGAAA), causing a frameshift at codon 1309. This creates a premature translational stop signal in the last exon of the APC mRNA (p.Glu1309Argfs*11). While this is not anticipated to result in nonsense mediated decay, it is expected to result in the loss of more than 1,500 amino acids, deleting approximately 54% of the APC protein. Truncating variants in APC are known to be pathogenic. This particular truncation has been reported in the literature in several individuals affected with familial adenomatous polyposis (PMID: 24664542, 20223039, 9101302, 8162022, 20685668). This variant is also known as c.3922_3925delAAAG and 3925del4 in the literature. For these reasons, this variant has been classified as Pathogenic.

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