Variant NM_000492.4:c.4056G>C


Variant details:
Name NM_000492.4:c.4056G>C
Protein name NP_000483.3:p.(Gln1352His)
Genomic name (hg19)     chr7:g.117304834G>C    UCSC    
Genomic name (hg38) chr7:g.117664780G>C    UCSC
#Exon/intron exon 25
Legacy Name Q1352H(G>C)
Class disease-causing
Subclass CFTR-RD-causing
WT sequence GTGTCCTAAGCCATGGCCACAAGCA G TTGATGTGCTTGGCTAGATCTGTTC
Mutant sequence GTGTCCTAAGCCATGGCCACAAGCA C TTGATGTGCTTGGCTAGATCTGTTC

Other databases:

Not found		dbSNP
rs113857788



Pathogenicity predictors:

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Lee et al, 2003 12952861 ✓ ✓ ✓


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



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 11
Asymptomatic compound heterozygote 2
CFTR-RD9
  • CBAVD  9




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 679heterozygoteCF-causing - Trans
CBAVD 2582heterozygotevarying clinical consequence- Undef
VUS3- Undef
CBAVD 2119heterozygoteCF-causing- Undef
CBAVD 2095heterozygoteCF-causing- Undef
CBAVD 5465heterozygoteCF-causing- Undef
CBAVD 4998heterozygoteVUS3 - Trans
VUS3 - Trans
CBAVD 1390heterozygoteVUS3- Undef
CBAVD 1345heterozygote
CBAVD 4599homozygotec.1210-34_1210-6TG[13]T[5] - Trans
c.4056G>C - p.(Gln1352His) - Trans
Asymptomatic compound heterozygote 2275heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 2210heterozygoteCF-causing - Trans


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.



Go to CFTRare