Variant NM_000492.4:c.1397C>G


Variant details:
Name NM_000492.4:c.1397C>G
Protein name NP_000483.3:p.(Ser466*)
Genomic name (hg19)     chr7:g.117199522C>G    UCSC    
Genomic name (hg38) chr7:g.117559468C>G    UCSC
#Exon/intron exon 11
Legacy Name S466X(TGA)
Class disease-causing
Subclass CF-causing
WT sequence AATGATGGGTTTTATTTCCAGACTT C ACTTCTAATGGTGATTATGGGAGAA
Mutant sequence AATGATGGGTTTTATTTCCAGACTT G ACTTCTAATGGTGATTATGGGAGAA

Other databases:
dbSNP
rs121908805







Pathogenicity predictors:

Not found




Response to modulators:         +


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

variant non responsiveness based on clinical data, sweat chloride concentration, ppFEV1, chest CT imaging before and after ETI treatment (n>3 for 6-8 weeks)


No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 6
CF 6




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

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 5697heterozygotevarying clinical consequence - Cis
CF-causing - Trans
CF 1926heterozygoteCF-causing - Trans
CF 4917heterozygoteCF-causing- Undef
CF 4930heterozygoteCF-causing - Cis
CF-causing - Trans
CF 6091heterozygoteCF-causing - Trans
CF 1271homozygotec.1397C>G - p.(Ser466*) - Trans
c.3209G>A - p.(Arg1070Gln) - 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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