CFTR-France

**Updates for c.4091C>T:**
2024-10-14	Class updated from VUS4 to unclassified /non-CF

Variant details:
Name	NM_000492.4:c.4091C>T
Protein name	NP_000483.3:p.(Ala1364Val)
Genomic name (hg19)	chr7:g.117304869C>T UCSC
Genomic name (hg38)	chr7:g.117664815C>T UCSC
#Exon/intron	exon 25
Legacy Name	A1364V
Class	VUS
Subclass	non-CF
WT sequence	TTGGCTAGATCTGTTCTCAGTAAGG C GAAGATCTTGCTGCTTGATGAACCC
Mutant sequence	TTGGCTAGATCTGTTCTCAGTAAGG T GAAGATCTTGCTGCTTGATGAACCC

Other databases:
	Not found	dbSNP rs397508670


Reference	PMID	Splicing	mRNA level	Maturation	Localization	Channel fonction (Cl-)	Bicarbonate
Bergougnoux et al, 2022	36567205	✓	✓	✓	✓	✓

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

No patient found in CFTR-NGS catalogue

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

TOTAL NUMBER OF PATIENTS	1
CFTR-RD	1 CBAVD 1

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

Detailed genotypes:
Phenotype	Patient ID	Variant status	Additional variants
CBAVD	420	heterozygote	CF-causing- Undef

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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