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    
Genomic name (hg38) chr7:g.117534368A>G    UCSC
#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

Other databases:
dbSNP
rs397508761







Pathogenicity predictors:

Not found

Functional studies:


Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
Raynal et al, 2013 23381846 ✓


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


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-IVA yesnoyesno

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 14
Asymptomatic compound heterozygote 1
CF 4
CFTR-RD7
  • Aquagenic palmoplantar keratoderma  1
  • CBAVD  4
  • Pancreatitis  2
Pending 1
Pending (NBS) 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pancreatitis 4687heterozygoteCF-causing- Undef
Pancreatitis 4241heterozygoteCF-causing- Undef
CF 6314heterozygoteCF-causing- Undef
CF 926heterozygoteCF-causing - Trans
CF 220heterozygoteCF-causing- Undef
CF 4719heterozygoteCF-causing - Trans
Aquagenic palmoplantar keratoderma 5352heterozygote
CBAVD 1969heterozygoteCF-causing- Undef
VUS3- Undef
CBAVD 6247heterozygoteCFTR-RD-causing- Undef
CBAVD 4584heterozygoteCF-causing- Undef
CBAVD 1242homozygotec.579+3A>G - p.(=) - Trans
Pending (NBS) 1580heterozygoteCF-causing - Trans
Pending 1586heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 2279heterozygoteCFTR-RD-causing - 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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