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MUTATION c.1680-886A>G

Question
Hello,

Could you give me information about the mutation c.1680-886A> G? Does it induce a stop-codon?

Thank you in advance.
Answer
Hello,

The mutation c.1680-886A> G results in the creation of a splice donor site and an insertion of 49 base pairs between exons 11 and 12 which results in a frameshift and finally in a stop codon.

So this is a class I mutation which results in the lack of synthesis of CFTR protein. This is a known "CF Causing" mutation, say cause of cystic fibrosis when it is associated with another CF causing mutation.

Hope this answer can help.
Best wishes
Gilles RAULT, MD, Roscoff CF Center
11.05.2016