Variant NM_000492.4:c.3469-1304C>G


Variant details:
Name NM_000492.4:c.3469-1304C>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117266272C>G    UCSC    
Genomic name (hg38) chr7:g.117626218C>G    UCSC
#Exon/intron intron 21
Class disease-causing
Subclass CF-causing
WT sequence AAAACAGGCAATACAGTTAGAATTG C TAAGATGGAATTTTAACGTTCAATT
Mutant sequence AAAACAGGCAATACAGTTAGAATTG G TAAGATGGAATTTTAACGTTCAATT

Other databases:

Not found
Not found		dbSNP
no rs







Pathogenicity predictors:

Not found

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Bergougnoux et al, 2018 30389601 ✓


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



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



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


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

TOTAL NUMBER OF PATIENTS 5
CF 5




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 5044heterozygoteCF-causing- Undef
CF 5064heterozygoteCF-causing - Trans
CF 5066heterozygoteCF-causing - Trans
CF 4967heterozygoteCF-causing - Trans
CF 4966homozygotec.3469-1304C>G - p.(=) - 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.



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