Variant NM_000492.4:c.579+3A>G


Variant details:
Name NM_000492.4:c.579+3A>G
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117174422A>G    UCSC    gnomAD
#Exon/intron intron 5
Legacy Name 711+3A>G
Class disease-causing
Subclass varying clinical consequence
WT sequence ACAACCTGAACAAATTTGATGAAGT A TGTACCTATTGATTTAATCTTTTAG
Mutant sequence ACAACCTGAACAAATTTGATGAAGT G TGTACCTATTGATTTAATCTTTTAG






External sources:
dbSNP
rs397508761
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


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

TOTAL NUMBER OF PATIENTS 12
Asymptomatic compound heterozygote 1
CF 3
CFTR-RD6
  • Aquagenic palmoplantar keratoderma  1
  • CBAVD  3
  • Pancreatitis  2
Pending 1
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pancreatitis 4687heterozygoteCF-causing- Undef
Pancreatitis 4241heterozygoteCF-causing- Undef
CF 926heterozygoteCF-causing - Trans
CF 220heterozygoteCF-causing- Undef
CF 4719heterozygoteCF-causing - Trans
Aquagenic palmoplantar keratoderma 5352heterozygote
CBAVD 1969heterozygoteCF-causing- Undef
VUS1- Undef
CBAVD 4584heterozygoteCF-causing- Undef
CBAVD 1242homozygotec.579+3A>G - p.(=) - Trans
Pending (NBS) 1580heterozygoteCF-causing - Trans
Pending 1586heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 2279heterozygoteVUS3 - Trans


Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   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