CFTR-NGS catalogue Variants List History

Please click below for a file containing the list of CFTR-NGS catalogue variants and their classification.


In the most recent file (11 june 2021), a total of 1128 variants are reported in CFTR-NGS catalogue.

• 19 variants CF-causing: when in trans with another CF-causing mutation, will result in CF
• 7 variants CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-RD such as chronic pancreatitis, bronchiectasis, CRS-NP (chronic rhinosinusitis with or without nasal polyposis) or CBAVD (congenital absence of vas deferens), according to Bombieri C et al., 2011
• 5 variants of varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD
• 1 variants disease causing (CF or CFTR-RD): cause a phenotype but as they were never found in trans with a CF-causing mutation, we can't associate them with CF or CFTR-RD
• 27 variants non disease-causing
• 18 variants of unknown significance (VUS)
• 1051 variants have never been reported in CFTR-France

Versions:
List of all CFTR-NGS catalogue variants (11/06/2021)

Citing CFTR-France

Claustres M, Thèze C, des Georges M, Baux D, Girodon E, Bienvenu T, Audrezet MP, Dugueperoux I, Férec C, Lalau G, Pagin A, Kitzis A, Thoreau V, Gaston V, Bieth E, Malinge MC, Reboul MP, Fergelot P, Lemonnier L, Mekki C, Fanen P, Bergougnoux A, Sasorith S, Raynal C, Bareil C.
CFTR-France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants.
Hum Mutat. 2017 Oct;38(10):1297-1315. doi: 10.1002/humu.23276. PMID: 28603918