CFTR-France

Variant details:
Name	NM_000492.4:c.595C>T
Protein name	NP_000483.3:p.(His199Tyr)
Genomic name (hg19)	chr7:g.117175317C>T UCSC
#Exon/intron	exon 6
Legacy Name	H199Y
Class	disease-causing
Subclass	CF-causing
WT sequence	TATTTTCCAGGGACTTGCATTGGCA C ATTTCGTGTGGATCGCTCCTTTGCA
Mutant sequence	TATTTTCCAGGGACTTGCATTGGCA T ATTTCGTGTGGATCGCTCCTTTGCA

Other databases:
		dbSNP rs121908802


Reference	PMID	Splicing	mRNA level	Maturation	Localization	Channel fonction (Cl-)	Bicarbonate
Sosnay et al, 2013	23974870			✓

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

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	5
CF	5

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	5370	heterozygote	CF-causing- Undef
CF	2017	heterozygote	CF-causing- Undef
CF	4079	heterozygote	CF-causing- Undef
CF	4227	heterozygote	CF-causing - Trans
CF	4251	heterozygote	CF-causing - Trans

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