Variant NM_000492.4:c.3468G>A


Variant details:
Name NM_000492.4:c.3468G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117254767G>A    UCSC    
Genomic name (hg38) chr7:g.117614713G>A    UCSC
#Exon/intron exon 21
Legacy Name L1156L (3600G/A)
Class disease-causing
Subclass varying clinical consequence
WT sequence ACTCCAGCATAGATGTGGATAGCTT G GTAAGTCTTATCATCTTTTTAACTT
Mutant sequence ACTCCAGCATAGATGTGGATAGCTT A GTAAGTCTTATCATCTTTTTAACTT

Other databases:
dbSNP
no rs







Pathogenicity predictors:

Not found



Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
ELX-TEZ-IVA yesnoyesno

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 5
CF 3
CFTR-RD2
  • CBAVD  1
  • Pancreatitis  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 180heterozygoteCF-causing - Trans
CF 5438heterozygoteCF-causing - Trans
CF 4912heterozygoteCF-causing - Trans
CBAVD 1809homozygotec.3468G>A - p.(=) - Trans
Pancreatitis 5150homozygotec.3468G>A - 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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