CFTR-France

**Updates for c.3014T>G:**
2024-10-14	Class updated from VUS5 to likely pathogenic/likely CF

Variant details:
Name	NM_000492.4:c.3014T>G
Protein name	NP_000483.3:p.(Ile1005Arg)
Genomic name (hg19)	chr7:g.117250598T>G UCSC
Genomic name (hg38)	chr7:g.117610544T>G UCSC
#Exon/intron	exon 19
Legacy Name	I1005R
Class	likely pathogenic
Subclass	likely CF
WT sequence	TTGTTATTAATTGTGATTGGAGCTA T AGCAGTTGTCGCAGTTTTACAACCC
Mutant sequence	TTGTTATTAATTGTGATTGGAGCTA G AGCAGTTGTCGCAGTTTTACAACCC

Other databases:
	Not found	dbSNP rs397508479


Reference	PMID	Splicing	mRNA level	Maturation	Localization	Channel fonction (Cl-)	Bicarbonate
Raynal et al, 2013	23381846	✓

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

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	2
CF	2

Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	188	heterozygote	CF-causing - Trans
CF	1518	heterozygote	CF-causing - Trans

Color code: non disease-causing < likely benign < VUS < likely pathogenic < disease-causing

CFTR variants are clustered into five groups (click here for more details about the classification of variants):

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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