CFTR-France

Variant details:
Name	NM_000492.4:c.1645A>C
Protein name	NP_000483.3:p.(Ser549Arg)
Genomic name (hg19)	chr7:g.117227853A>C UCSC
#Exon/intron	exon 12
Legacy Name	S549R(A>C)
Class	disease-causing
Subclass	CF-causing
WT sequence	TCTTGGAGAAGGTGGAATCACACTG A GTGGAGGTCAACGAGCAAGAATTTC
Mutant sequence	TCTTGGAGAAGGTGGAATCACACTG C GTGGAGGTCAACGAGCAAGAATTTC

Other databases:
		dbSNP rs121908757

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	3
CF	2
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
CBAVD	751	heterozygote	CFTR-RD-causing - Trans CFTR-RD-causing - Trans CFTR-RD-causing - Trans
CF	2379	heterozygote	CF-causing- Undef
CF	6037	heterozygote	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.

Go to