CFTR-France

Variant details:
Name	NM_000492.4:c.2620-26A>G
Protein name	NP_000483.3:p.(=)
Genomic name (hg19)	chr7:g.117242854A>G UCSC
#Exon/intron	intron 15
Legacy Name	2752-26A>G
Class	non disease-causing
WT sequence	AATAGGTGAAGATGTTAGAAAAAAA A TCAACTGTGTCTTGTTCCATTCCAG
Mutant sequence	AATAGGTGAAGATGTTAGAAAAAAA G TCAACTGTGTCTTGTTCCATTCCAG

Other databases:
		dbSNP rs201716473

Pathogenicity predictors:
Not found

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

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	4
Asymptomatic compound heterozygote	3
CFTR-RD	1 Other 1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
Asymptomatic compound heterozygote	4840	heterozygote	VUS1- Undef
Asymptomatic compound heterozygote	2798	heterozygote	CF-causing - Trans
Asymptomatic compound heterozygote	2929	heterozygote	CF-causing - Trans
Other	3054	heterozygote	varying clinical consequence - 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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