ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6010dup (p.Ala2004fs) (rs879254226)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000236742 SCV000293893 likely pathogenic not provided 2016-02-01 criteria provided, single submitter clinical testing This duplication of one nucleotide in APC is denoted c.6010dupG at the cDNA level and p.Ala2004GlyfsX7 (A2004GfsX7) at the protein level. The normal sequence, with the base that is duplicated in braces, is TCAA[G]CATC. The duplication causes a frameshift, which changes an Alanine to a Glycine at codon 2004, and creates a premature stop codon at position 7 of the new reading frame. Although this variant has not, to our knowledge, been reported in the literature, it is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Based on the currently available information, we consider this duplication to be a likely pathogenic variant.

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