CFTR-France

Variant details:
Name	NM_000492.4:c.1040G>T
Protein name	NP_000483.3:p.(Arg347Leu)
Genomic name (hg19)	chr7:g.117180324G>T UCSC
#Exon/intron	exon 8
Legacy Name	R347L
Class	disease-causing
Subclass	CF-causing
WT sequence	ACCATCTCATTCTGCATTGTTCTGC G CATGGCGGTCACTCGGCAATTTCCC
Mutant sequence	ACCATCTCATTCTGCATTGTTCTGC T CATGGCGGTCACTCGGCAATTTCCC

Other databases:
	Not found	dbSNP rs77932196

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	4
Asymptomatic compound heterozygote	1
CF	2
Pending (NBS)	1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	2660	heterozygote	CF-causing- Undef
CF	3532	heterozygote	CF-causing - Trans
Asymptomatic compound heterozygote	4522	heterozygote	VUS1 - Trans
Pending (NBS)	6099	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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