CFTR-France

Variant details:
Name	NM_000492.4:c.1420G>A
Protein name	NP_000483.3:p.(Glu474Lys)
Genomic name (hg19)	chr7:g.117199545G>A UCSC gnomAD
#Exon/intron	exon 11
Legacy Name	E474K
Class	disease-causing
Subclass	varying clinical consequence
WT sequence	TTCACTTCTAATGGTGATTATGGGA G AACTGGAGCCTTCAGAGGGTAAAAT
Mutant sequence	TTCACTTCTAATGGTGATTATGGGA A AACTGGAGCCTTCAGAGGGTAAAAT

External sources:
		dbSNP rs756206533

Pathogenicity predictions:
AGVGD	MAPP	SIFT	PPH2
C0	0.442	0.19	1
VUS1	VUS1	VUS2	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	1
CFTR-RD	1 Bronchiectasis 1

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
Bronchiectasis	5849	heterozygote	CF-causing - Trans
CF	2880	heterozygote	CF-causing- 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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