ClinVar Miner

Submissions for variant NM_000038.6(APC):c.4010_4013dup (p.Gln1338fs)

dbSNP: rs1131691256
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493785 SCV000581711 not provided not provided no assertion provided clinical testing This duplication of 4 nucleotides in APC is denoted c.4010_4013dupTGCA at the cDNA level and p.Gln1338HisfsX5 (Q1338HfsX5) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is AGAC[TGCA]GGGT. The duplication causes a frameshift, which changes a Glutamine to a Histidine at codon 1338, and creates a premature stop codon at position 5 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. we consider this variant to be pathogenic.

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