CFTR-France

Variant details:
Name	NM_000492.4:c.2215del
Protein name	NP_000483.3:p.(Val739Tyrfs*16)
Genomic name (hg19)	chr7:g.117232436del UCSC
#Exon/intron	exon 14
Legacy Name	2347delG
Class	disease-causing
Subclass	CF-causing
WT sequence	GCCTTTAGAGAGAAGGCTGTCCTTA G TACCAGATTCTGAGCAGGGAGAGGC
Mutant sequence	GCCTTTAGAGAGAAGGCTGTCCTTA - TACCAGATTCTGAGCAGGGAGAGGC

Other databases:
		dbSNP rs397508353

Pathogenicity predictors:
Not found

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	8
CF	8

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	5226	heterozygote	CF-causing- Undef
CF	1561	heterozygote	CF-causing - Trans
CF	2026	heterozygote	CF-causing - Trans
CF	2125	heterozygote	CF-causing - Trans
CF	2376	heterozygote	CF-causing- Undef
CF	4541	heterozygote	CF-causing - Trans
CF	6103	heterozygote	CF-causing- Undef
CF	780	homozygote	c.1210-34_1210-6TG[11]T[5] - Trans c.1684G>A - p.(Val562Ile) - Trans *c.2215del - p.(Val739Tyrfs16) - 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.

Go to