CFTR-France

Variant details:
Name	NM_000492.4:c.1517T>C
Protein name	NP_000483.3:p.(Ile506Thr)
Genomic name (hg19)	chr7:g.117199642T>C UCSC
#Exon/intron	exon 11
Legacy Name	I506T
Class	disease-causing
Subclass	CF-causing
WT sequence	ATGCCTGGCACCATTAAAGAAAATA T CATCTTTGGTGTTTCCTATGATGAA
Mutant sequence	ATGCCTGGCACCATTAAAGAAAATA C CATCTTTGGTGTTTCCTATGATGAA

Other databases:
	Not found	dbSNP rs397508224

1 individuals carrying this variant are reported in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	9
Asymptomatic compound heterozygote	1
CF	6
CFTR-RD	1 CBAVD 1
Fetal bowel anomalies	1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	19	heterozygote	varying clinical consequence - Trans
CF	561	heterozygote	CF-causing - Trans
CF	5092	heterozygote	CF-causing - Trans
CF	5867	heterozygote	varying clinical consequence- Undef
CF	4400	heterozygote	CF-causing- Undef
CF	1247	homozygote	c.1517T>C - p.(Ile506Thr) - Trans
Fetal bowel anomalies	824	heterozygote	CF-causing - Trans
CBAVD	5519	heterozygote	CFTR-RD-causing- Undef CFTR-RD-causing- Undef CFTR-RD-causing- Undef
Asymptomatic compound heterozygote	5595	heterozygote	CFTR-RD-causing- Undef

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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