CFTR-France

Other databases:
Not found	Not found	dbSNP no rs

Pathogenicity predictors:
Not found	Not found

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	3
CFTR-RD	1 CBAVD 1
Pending (NBS)	2

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CBAVD	1052	heterozygote	varying clinical consequence- Undef varying clinical consequence- Undef
Pending (NBS)	5037	heterozygote	CFTR-RD-causing- Undef CF-causing- Undef varying clinical consequence- Undef
Pending (NBS)	4119	heterozygote	CF-causing - Cis CFTR-RD-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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