pancreatitis / Cystic fibrosis

Question

Good evening.
I am 11 weeks pregnant and the cystic fibrosis test showed the following:
No pathogenic or likely pathogenic variant mediating the classic cystic fibrosis disease was detected in the examined sample.
The examined sample carries the mild variant c.3705T>G (p.Ser1235Arg, rs34911792) in heterozygosity, which is characterized as non-pathogenic with regard to the manifestation of cystic fibrosis from the CFTR2 genotype-phenotype association database (non CF-causing).
Based on the international scientific literature, the p.Ser1235Arg allele may be a risk factor for the occurrence of clinical conditions that have been associated with mutations of the CFTR gene (CFTR-Related Disorders) such as pancreatitis alone or together with variants of other genes involved in the occurrence of pancreatitis. (PMID: 11186891, 25799511, 25033378 )
Now the husband will also be examined. In case a mutation is found in him, is it dangerous? Or must exactly the same heterozygotes be found??

Answer

The p.Ser1235Arg variant is not pathogenic, its combination with any pathogenic variant does not lead to the occurrence of Cystic Fibrosis.
If your husband is found to be a carrier of any pathogenic variant in the CFTR gene, the offspring who inherits both variants will not develop cystic fibrosis.
Best regards,
M. Poulou

05.03.2025