Variant NM_000492.4:c.2491G>T


Variant details:
Name NM_000492.4:c.2491G>T
Protein name NP_000483.3:p.(Glu831*)
Genomic name (hg19) chr7:g.117234984G>T    UCSC    
#Exon/intron exon 15
Legacy Name E831X
Class disease-causing
Subclass CF-causing
WT sequence TAATAGCCATAATTCTTTTATTCAG G AGTGCTTTTTTGATGATATGGAGAG
Mutant sequence TAATAGCCATAATTCTTTTATTCAG T AGTGCTTTTTTGATGATATGGAGAG

Other databases:
dbSNP
rs397508387







Pathogenicity predictors:

Not found



Response to modulators:


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


clinical and functional data are provided by Vertex


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
CF 2
CFTR-RD1
  • CRS-NP  1




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CRS-NP 349heterozygoteVUS1- Undef
CF 5094heterozygoteCF-causing - Trans
CF 6177heterozygoteCF-causing- Undef


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.



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