CFTR-France

Variant details:
Name	NM_000492.4:c.1920T>C
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117232141T>C UCSC
#Exon/intron	exon 14
Legacy Name	F640F (2052T/C)
Class	VUS
WT sequence	AACTCCAAAATCTACAGCCAGACTT T AGCTCAAAACTCATGGGATGTGATT
Mutant sequence	AACTCCAAAATCTACAGCCAGACTT C AGCTCAAAACTCATGGGATGTGATT

Other databases:
	Not found	dbSNP rs145877746

Pathogenicity predictors:
Not found

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	2
CF	1
Pending (NBS)	1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CF	382	heterozygote	CFTR-RD-causing - Cis CFTR-RD-causing - Cis CFTR-RD-causing - Cis CF-causing - Trans
Pending (NBS)	5703	heterozygote	CFTR-RD-causing - Cis CFTR-RD-causing - Cis CFTR-RD-causing - Cis 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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