CFTR-France

Variant details:
Name	NM_000492.4:c.3181G>C
Protein name	NP_000483.3:p.(Gly1061Arg)
Genomic name (hg19)	chr7:g.117251676G>C UCSC gnomAD
#Exon/intron	exon 20
Legacy Name	G1061R
Class	disease-causing
Subclass	CF-causing
WT sequence	CACTCATCTTGTTACAAGCTTAAAA G GACTATGGACACTTCGTGCCTTCGG
Mutant sequence	CACTCATCTTGTTACAAGCTTAAAA C GACTATGGACACTTCGTGCCTTCGG

External sources:
		dbSNP rs142394380

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C15	0.00011	0.02	1
VUS1	VUS5	VUS5	VUS5

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

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	5
CF	4
Pending	1

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	2497	heterozygote	CF-causing- Undef
CF	4633	heterozygote	CF-causing- Undef
CF	3410	heterozygote	CF-causing - Trans
CF	3737	heterozygote	CF-causing- Undef
Pending	5568	heterozygote	CF-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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