Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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. |