CFTR-France

Variant details:
Name	NM_000492.4:c.1766+3A>C
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117230496A>C UCSC
Genomic name (hg38)	chr7:g.117590442A>C UCSC
#Exon/intron	intron 13
Legacy Name	1898+3A>C
Class	disease-causing
Subclass	CF-causing
WT sequence	ACAGAAAAAGAAATATTTGAAAGGT A TGTTCTTTGAATACCTTACTTATAA
Mutant sequence	ACAGAAAAAGAAATATTTGAAAGGT C TGTTCTTTGAATACCTTACTTATAA

Other databases:
	Not found	dbSNP no rs

Pathogenicity predictors:
Not found

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	4
CF	3
CFTR-RD	1 CBAVD 1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	1285	heterozygote	CFTR-RD-causing - Trans CF-causing - Trans non-CF - Trans
CF	5672	heterozygote	CFTR-RD-causing - Trans CF-causing - Trans non-CF - Trans
CF	6186	homozygote	c.1766+3A>C - p.(=) - Trans
CBAVD	2751	heterozygote	CFTR-RD-causing- Undef

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

CFTR variants are clustered into five groups (click here for more details about the classification of variants):

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