Variant NM_000492.4:c.3472C>T


Variant details:
Name NM_000492.4:c.3472C>T
Protein name NP_000483.3:p.(Arg1158*)
Genomic name (hg19)     chr7:g.117267579C>T    UCSC    
Genomic name (hg38) chr7:g.117627525C>T    UCSC
#Exon/intron exon 22
Legacy Name R1158X
Class disease-causing
Subclass CF-causing
WT sequence AATGTTGTTATTTTTATTTCAGATG C GATCTGTGAGCCGAGTCTTTAAGTT
Mutant sequence AATGTTGTTATTTTTATTTCAGATG T GATCTGTGAGCCGAGTCTTTAAGTT

Other databases:
dbSNP
rs79850223







Pathogenicity predictors:

Not found





1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 13
CF 9
CFTR-RD2
  • Bronchiectasis  1
  • Pancreatitis  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
CF 331heterozygoteCF-causing - Trans
CF 4207heterozygoteCF-causing- Undef
CF 4103heterozygoteCF-causing- Undef
CF 5770heterozygoteVUS3- Undef
CF 6432heterozygoteVUS3- Undef
CF 3171heterozygoteCF-causing- Undef
CF 6404heterozygoteVUS2- Undef
CF-causing- Undef
CF 867heterozygoteCF-causing - Trans
CF 987homozygotec.3472C>T - p.(Arg1158*) - Trans
Pancreatitis 5668heterozygoteCFTR-RD-causing- Undef
Pending (NBS) 3663heterozygoteCFTR-RD-causing - Trans
Pending (NBS) 3478heterozygoteCFTR-RD-causing - Trans
VUS3- Undef
Bronchiectasis 6304heterozygotevarying 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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