CFTR-France

Variant details:
Name	NM_000492.4:c.350G>T
Protein name	NP_000483.3:p.(Arg117Leu)
Genomic name (hg19)	chr7:g.117171029G>T UCSC gnomAD
#Exon/intron	exon 4
Legacy Name	R117L
Class	disease-causing
WT sequence	TATGACCCGGATAACAAGGAGGAAC G CTCTATCGCGATTTATCTAGGCATA
Mutant sequence	TATGACCCGGATAACAAGGAGGAAC T CTCTATCGCGATTTATCTAGGCATA

External sources:
		dbSNP rs78655421


Reference	PMID	Splicing	mRNA level	Maturation	Localization	Channel fonction (Cl-)	Bicarbonate
Hammerle et al, 2001	11278813			✓	✓	✓

« ✓ » indicates the type of analysis performed and not the results

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C15	0.0002	0.03	1
VUS1	VUS5	VUS5	VUS5

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

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	2
CF	2

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	2702	heterozygote	CF-causing - Trans
CF	2703	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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