Updates for c.349C>G:
2020-09-28 Class changed from VUS4 to disease-causing ; subclass remains unknown
2021-01-18 subclass updated from not defined to CFTR-RD-causing




Variant NM_000492.4:c.349C>G


Variant details:
Name NM_000492.4:c.349C>G
Protein name NP_000483.3:p.(Arg117Gly)
Genomic name (hg19)     chr7:g.117171028C>G    UCSC    
Genomic name (hg38) chr7:g.117530974C>G    UCSC
#Exon/intron exon 4
Legacy Name R117G
Class disease-causing
Subclass CFTR-RD-causing
WT sequence CTATGACCCGGATAACAAGGAGGAA C GCTCTATCGCGATTTATCTAGGCAT
Mutant sequence CTATGACCCGGATAACAAGGAGGAA G GCTCTATCGCGATTTATCTAGGCAT

Other databases:
dbSNP
rs77834169



Pathogenicity predictors:



Response to modulators:


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

clinical and functional data presented above are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
CFTR-RD3
  • CBAVD  2
  • Other  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
Other 935heterozygote
CBAVD 5330heterozygoteCF-causing- Undef
CBAVD 5281heterozygoteCFTR-RD-causing - Trans
Pending (NBS) 6030heterozygoteCF-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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