Variant NM_000492.4:c.4426C>T


Variant details:
Name NM_000492.4:c.4426C>T
Protein name NP_000483.3:p.(Gln1476*)
Genomic name (hg19)     chr7:g.117307145C>T    UCSC    
Genomic name (hg38) chr7:g.117667091C>T    UCSC
#Exon/intron exon 27
Legacy Name Q1476X
Class disease-causing
Subclass CFTR-RD-causing
WT sequence GAAAGAGGAGACAGAAGAAGAGGTG C AAGATACAAGGCTTTAGAGAGCAGC
Mutant sequence GAAAGAGGAGACAGAAGAAGAGGTG T AAGATACAAGGCTTTAGAGAGCAGC

Other databases:
dbSNP
rs374705585







Pathogenicity predictors:

Not found




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 14
Asymptomatic compound heterozygote 1
CF 1
CFTR-RD11
  • Bronchiectasis  1
  • CBAVD  10
Pending (NBS) 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 485heterozygoteCF-causing- Undef
CBAVD 3314heterozygoteCF-causing- Undef
CBAVD 4754heterozygoteCF-causing- Undef
CBAVD 4650heterozygoteCF-causing- Undef
CBAVD 2759heterozygoteCF-causing- Undef
CBAVD 2649heterozygotevarying clinical consequence- Undef
CBAVD 2562heterozygoteCF-causing- Undef
CBAVD 6280heterozygoteCF-causing- Undef
CBAVD 1724heterozygoteCF-causing- Undef
CBAVD 1374heterozygoteCF-causing- Undef
Pending (NBS) 5816heterozygoteCF-causing- Undef
Bronchiectasis 1237heterozygoteCF-causing- Undef
CF 3120heterozygoteCF-causing- Undef
Asymptomatic compound heterozygote 5596heterozygoteCF-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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