CFTR-France

Variant details:
Name	NM_000492.4:c.3718-24G>A
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117282468G>A UCSC
#Exon/intron	intron 22
Class	VUS
WT sequence	CATGGTACCTATATGTCACAGAAGT G ATCCCATCACTTTTACCTTATAGGT
Mutant sequence	CATGGTACCTATATGTCACAGAAGT A ATCCCATCACTTTTACCTTATAGGT

Other databases:
Not found	Not found	dbSNP rs374013084

Pathogenicity predictors:
Not found

1 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
Asymptomatic compound heterozygote	2
CF	1
CFTR-RD	2 CRS-NP 1 Other 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	5535	heterozygote	CFTR-RD-causing- Undef
Asymptomatic compound heterozygote	5527	heterozygote	CFTR-RD-causing- Undef
CRS-NP	5531	heterozygote	CFTR-RD-causing - Cis CF-causing - Trans
CF	5051	heterozygote	VUS3- Undef
Other	4563	heterozygote	CFTR-RD-causing- Undef CF-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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