ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5234dup (p.Ile1746fs) (rs1554086550)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000481359 SCV000571885 likely pathogenic not provided 2016-10-04 criteria provided, single submitter clinical testing This duplication of one nucleotide in APC is denoted c.5234dupA at the cDNA level and p.Ile1746AspfsX23 (I1746DfsX23) at the protein level. The normal sequence, with the base that is duplicated in braces, is GAAAA[A]GATA. The duplication causes a frameshift which changes an Isoleucine to an Aspartic Acid at codon 1746, and creates a premature stop codon at position 23 of the new reading frame. Even though this frameshift occurs in the last exon of the gene, and nonsense-mediated decay is not expected to occur, it is significant since the last 1098 amino acids are replaced by 22 incorrect ones. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through protein truncation. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

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