CFTR-France

Variant details:
Name	NM_000492.4:c.3872A>G
Protein name	NP_000483.3:p.(Gln1291Arg)
Genomic name (hg19)	chr7:g.117282646A>G UCSC gnomAD
#Exon/intron	exon 23
Legacy Name	Q1291R
Class	disease-causing
Subclass	varying clinical consequence
WT sequence	AGGAAAGCCTTTGGAGTGATACCAC A GGTGAGCAAAAGGACTTAGCCAGAA
Mutant sequence	AGGAAAGCCTTTGGAGTGATACCAC G GGTGAGCAAAAGGACTTAGCCAGAA

External sources:
		dbSNP rs397508621

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C35	1e-05	0	0.049
VUS2	VUS5	VUS5	VUS1

Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < disease-causing

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	4847	heterozygote	CF-causing- Undef
CF	2131	heterozygote	CF-causing- Undef
CBAVD	4931	heterozygote	VUS3- Undef

Color code: non disease-causing < VUS1 < VUS2 < VUS3 < VUS4 < VUS5 < 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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