CFTR-France

Variant details:
Name	NM_000492.4:c.4242+1G>A
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117305619G>A UCSC
#Exon/intron	intron 26
Legacy Name	4374+1G>A
Class	disease-causing
Subclass	CF-causing
WT sequence	AATGCTGGAATGCCAACAATTTTTG G TGAGTCTTTATAACTTTACTTAAGA
Mutant sequence	AATGCTGGAATGCCAACAATTTTTG A TGAGTCTTTATAACTTTACTTAAGA

Other databases:
		dbSNP no rs

Pathogenicity predictors:
Not found

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	5
Asymptomatic compound heterozygote	2
CF	3

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	383	heterozygote	varying clinical consequence - Cis CF-causing - Trans
CF	1932	heterozygote	CF-causing- Undef
CF	1260	homozygote	c.1210-34_1210-6TG[10]T[8] - Trans c.4137-89A>G - p.(=) - Trans c.4242+1G>A - p.(=) - Trans
Asymptomatic compound heterozygote	4989	heterozygote	CFTR-RD-causing - Trans CFTR-RD-causing - Trans
Asymptomatic compound heterozygote	2214	heterozygote	VUS3- Undef CFTR-RD-causing- Undef

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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