Updates for c.3131A>G:
2024-10-14 Class updated from VUS4 to likely pathogenic/likely CF




Variant NM_000492.4:c.3131A>G


Variant details:
Name NM_000492.4:c.3131A>G
Protein name NP_000483.3:p.(Glu1044Gly)
Genomic name (hg19)     chr7:g.117250715A>G    UCSC    
Genomic name (hg38) chr7:g.117610661A>G    UCSC
#Exon/intron exon 19
Legacy Name E1044G
Class likely pathogenic
Subclass likely CF
WT sequence ACCTCACAGCAACTCAAACAACTGG A ATCTGAAGGTATGACAGTGAATGTG
Mutant sequence ACCTCACAGCAACTCAAACAACTGG G ATCTGAAGGTATGACAGTGAATGTG

Other databases:
dbSNP
rs397508501



Pathogenicity predictors:




Response to modulators:         +


Reference PMID Modulator in vitro / ex vivo data Clinical data Variant responsiveness
Burgel et al., 2024 39151434 ELX-TEZ-IVAN.D. yes yes

variant responsiveness based on clinical data, sweat chloride concentration, ppFEV1, chest CT imaging before and after ETI treatment (n=1 patient for 6-8 weeks)


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 2
CF 2




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 6021heterozygoteCF-causing - Trans
CF 730homozygotec.3131A>G - p.(Glu1044Gly) - 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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