CFTR-France

Variant details:
Name	NM_000492.4:c.349C>G
Protein name	NP_000483.3:p.(Arg117Gly)
Genomic name (hg19)	chr7:g.117171028C>G UCSC gnomAD
#Exon/intron	exon 4
Legacy Name	R117G
Class	disease-causing
Subclass	CFTR-RD-causing
WT sequence	CTATGACCCGGATAACAAGGAGGAA C GCTCTATCGCGATTTATCTAGGCAT
Mutant sequence	CTATGACCCGGATAACAAGGAGGAA G GCTCTATCGCGATTTATCTAGGCAT

External sources:
		dbSNP rs77834169

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C0	0.0143	0.07	1
VUS1	VUS4	VUS4	VUS5

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
CFTR-RD	3 CBAVD 2 Other 1

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
Other	935	heterozygote
CBAVD	5330	heterozygote	CF-causing- Undef
CBAVD	5281	heterozygote	CFTR-RD-causing - Trans

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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