CFTR-France

Variant details:
Name	NM_000492.4:c.3874-4522A>G
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117288374A>G UCSC
#Exon/intron	intron 23
Class	disease-causing
Subclass	varying clinical consequence
WT sequence	TTTATTGTTTTTTGTTTGACATCCA A TGCTAAAGCATAATGCCTGTTGCAG
Mutant sequence	TTTATTGTTTTTTGTTTGACATCCA G TGCTAAAGCATAATGCCTGTTGCAG

Other databases:
Not found	Not found	dbSNP no rs

Pathogenicity predictors:
Not found

Reference	PMID	Splicing	mRNA level	Maturation	Localization	Channel fonction (Cl-)	Bicarbonate
Bergougnoux et al, 2018	30389601	✓

2 individuals carrying this variant are reported in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	5
CF	4
CFTR-RD	1 CBAVD 1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	313	heterozygote	CF-causing- Undef CFTR-RD-causing- Undef
CF	5032	heterozygote	CF-causing- Undef
CF	5067	heterozygote	CF-causing - Trans
CF	5069	heterozygote	CF-causing- Undef VUS3- Undef
CBAVD	5068	heterozygote	CF-causing - Trans

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

CFTR variants are clustered into five groups:

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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