CFTR-France

Variant details:
Name	NM_000492.4:c.2173G>A
Protein name	NP_000483.3:p.(Glu725Lys)
Genomic name (hg19)	chr7:g.117232394G>A UCSC
#Exon/intron	exon 14
Legacy Name	E725K
Class	likely benign
	complex allele in 25.00% of patients associated with c.1766+5G>A - p.(=) : 100.00%
WT sequence	GACTCCCTTACAAATGAATGGCATC G AAGAGGATTCTGATGAGCCTTTAGA
Mutant sequence	GACTCCCTTACAAATGAATGGCATC A AAGAGGATTCTGATGAGCCTTTAGA

Other databases:
	Not found	dbSNP rs199791061

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	1
CFTR-RD	1 Other 1
Pending (NBS)	1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
Asymptomatic compound heterozygote	4843	heterozygote	VUS3 - Cis CFTR-RD-causing - Trans
CF	297	heterozygote	CF-causing - Cis VUS3 - Cis CF-causing - Trans
Pending (NBS)	5802	heterozygote	VUS3 - Cis CF-causing - Trans
Other	4338	heterozygote	VUS3 - Cis 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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