CFTR-France

Variant details:
Name	NM_000492.4:c.1516A>C
Protein name	NP_000483.3:p.(Ile506Leu)
Genomic name (hg19)	chr7:g.117199641A>C UCSC
Genomic name (hg38)	chr7:g.117559587A>C UCSC
#Exon/intron	exon 11
Legacy Name	I506L
Class	VUS
Subclass	VUS
WT sequence	TATGCCTGGCACCATTAAAGAAAAT A TCATCTTTGGTGTTTCCTATGATGA
Mutant sequence	TATGCCTGGCACCATTAAAGAAAAT C TCATCTTTGGTGTTTCCTATGATGA

Other databases:
	Not found	dbSNP rs1800091

clinical and functional data presented above are provided by Vertex

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	2
CFTR-RD	1 CBAVD 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
Pending (NBS)	1530	heterozygote	CF-causing - Trans
CBAVD	4554	heterozygote

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

CFTR variants are clustered into five groups (click here for more details about the classification of variants):

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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