Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000657340 | SCV000779072 | likely pathogenic | not provided | 2017-06-13 | criteria provided, single submitter | clinical testing | This duplication of eight nucleotides in CHEK2 is denoted c.735_742dupAGTAGCCA at the cDNA level and p.Ile248LysfsX2 (I248KfsX2) at the protein level. The normal sequence, with the bases that are duplicated in brackets, is AGAA[dupAGTAGCCA]TAAA. The duplication causes a frameshift which changes an Isoleucine to a Lysine at codon 248, and creates a premature stop codon at position 2 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. |