Updates for c.3294G>C:
2020-09-08 Class updated from VUS4 to disease-causing; subclass is not defined yet




Variant NM_000492.4:c.3294G>C


Variant details:
Name NM_000492.4:c.3294G>C
Protein name NP_000483.3:p.(Trp1098Cys)
Genomic name (hg19)     chr7:g.117251789G>C    UCSC    
Genomic name (hg38) chr7:g.117611735G>C    UCSC
#Exon/intron exon 20
Legacy Name W1098C
Class disease-causing
WT sequence TCTTGTACCTGTCAACACTGCGCTG G TTCCAAATGAGAATAGAAATGATTT
Mutant sequence TCTTGTACCTGTCAACACTGCGCTG C TTCCAAATGAGAATAGAAATGATTT

Other databases:

Not found		 dbSNP
rs397508533



Pathogenicity predictors:



Response to modulators:


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

clinical and functional data presented above are provided by Vertex


1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
Asymptomatic compound heterozygote 1
CFTR-RD1
  • Other  1
Pending non-CF 1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pending non-CF 753heterozygoteCF-causing - Trans
Other 5243heterozygote
Asymptomatic compound heterozygote 6486heterozygoteCFTR-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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