Variant NM_000492.4:c.3718-3T>G


Variant details:
Name NM_000492.4:c.3718-3T>G
Protein name NP_000483.3:p.?
Genomic name (hg19)     chr7:g.117282489T>G    UCSC    
Genomic name (hg38) chr7:g.117642435T>G    UCSC
#Exon/intron intron 22
Legacy Name 3850-3T->G
Class disease-causing
Subclass CF-causing
WT sequence AAGTGATCCCATCACTTTTACCTTA T AGGTGGGCCTCTTGGGAAGAACTGG
Mutant sequence AAGTGATCCCATCACTTTTACCTTA G AGGTGGGCCTCTTGGGAAGAACTGG

Other databases:

Not found		 dbSNP
rs397508596







Pathogenicity predictors:

Not found



Response to modulators:


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

clinical and functional data presented above are provided by Vertex

No patient found in CFTR-NGS catalogue

No patient found in CFTR-France




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.



Go to CFTRare