Variant NM_000492.4:c.3140-26A>G


Variant details:
Name NM_000492.4:c.3140-26A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117251609A>G    UCSC    
#Exon/intron intron 19
Legacy Name 3272-26A>G
Class disease-causing
Subclass varying clinical consequence
WT sequence ACATTTTGTGTTTATGTTATTTGCA A TGTTTTCTATGGAAATATTTCACAG
Mutant sequence ACATTTTGTGTTTATGTTATTTGCA G TGTTTTCTATGGAAATATTTCACAG

Other databases:
dbSNP
rs76151804







Pathogenicity predictors:

Not found



Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVA yesnono yes
TEZ-IVA yes yesno yes
ELX-TEZ-IVAnononono


clinical and functional data are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 63
Asymptomatic compound heterozygote 2
CF 35
CFTR-RD17
  • Bronchiectasis  1
  • CBAVD  9
  • CRS-NP  1
  • Other  4
  • Pancreatitis  2
Pending (NBS) 9




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



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



            CFTR variants are clustered into five groups:
  • 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