CFTR-France

Variant details:
Name	NM_000492.4:c.-6186_273+507dup
Protein name	NP_000483.3:p.?
Genomic name (hg38)	chr7:g.117473909_117509649dup UCSC
#Exon/intron	UTR 5
Legacy Name	CFTRdup1-3
Class	disease-causing
Subclass	CF-causing

Other databases:
	Not found	dbSNP no rs

Pathogenicity predictors:
Not found	Not found

Response to modulators: +


Reference	PMID	Modulator	in vitro / ex vivo data	Clinical data	Variant responsiveness
Burgel et al., 2025	40932846	ELX-TEZ-IVA	N.D.	yes	yes

variant responsiveness based on clinical data, sweat chloride concentration, ppFEV1, chest CT imaging before and after ETI treatment (n=1 patient for 6-8 weeks)

No patient found in CFTR-NGS catalogue

3 patients carrying this variant are reported in CFTR-France:

TOTAL NUMBER OF PATIENTS	3
CF	3

Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	924	heterozygote	CF-causing - Trans
CF	6537	heterozygote	CF-causing- Undef
CF	4585	heterozygote	CF-causing - Trans

Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing

CFTR variants are clustered into five groups (click here for more details about the classification of variants):

CF-causing: when in trans with another CF-causing mutation, will result in CF.
CFTR-RD causing: when in trans with a CF-causing mutation, will result in CFTR-related disorders (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.
Varying clinical consequence: when in trans with another CF-causing mutation, can either result in CF or in a CFTR-RD.
Non disease-causing: when in trans with a CF-causing mutation, will not cause CF, nor CFTR-RD.
VUS (Variant of unknown clinical significance): unclassified because of insufficient data.

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