Variant NM_000492.4:c.3310G>T


Variant details:
Name NM_000492.4:c.3310G>T
Protein name NP_000483.3:p.(Glu1104*)
Genomic name (hg19)     chr7:g.117251805G>T    UCSC    
Genomic name (hg38) chr7:g.117611751G>T    UCSC
#Exon/intron exon 20
Legacy Name E1104X
Class disease-causing
Subclass CF-causing
WT sequence ACTGCGCTGGTTCCAAATGAGAATA G AAATGATTTTTGTCATCTTCTTCAT
Mutant sequence ACTGCGCTGGTTCCAAATGAGAATA T AAATGATTTTTGTCATCTTCTTCAT

Other databases:
dbSNP
rs397508538







Pathogenicity predictors:

Not found




Response to modulators:


Reference PMID Modulator in vitro / ex vivo data clinical data Patient responsiveness
Burgel et al., 2024 39151434 ELX-TEZ-IVAN.D. yesno



No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 12
CF 11
CFTR-RD1
  • CBAVD  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 4236heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CF 4160heterozygoteCF-causing - Trans
CF 5963heterozygoteCF-causing - Trans
CF 5036heterozygoteCF-causing- Undef
CF 1558heterozygoteCF-causing- Undef
CF 886heterozygoteCF-causing- Undef
CF 761heterozygoteCF-causing - Trans
CF 1261homozygotec.3310G>T - p.(Glu1104*) - Trans
CF 1246homozygotec.3310G>T - p.(Glu1104*) - Trans
CF 2968homozygotec.1210-34_1210-6TG[12]T[5] - Trans
c.3310G>T - p.(Glu1104*) - Trans
CF 354homozygotec.3310G>T - p.(Glu1104*) - Trans
CBAVD 5439heterozygoteCFTR-RD-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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