Variant NM_000492.4:c.1766G>A


Variant details:
Name NM_000492.4:c.1766G>A
Protein name NP_000483.3:p.(Ser589Asn)
Genomic name (hg19) chr7:g.117230493G>A    UCSC    gnomAD
#Exon/intron exon 13
Legacy Name S589N
Class VUS
WT sequence TTAACAGAAAAAGAAATATTTGAAA G GTATGTTCTTTGAATACCTTACTTA
Mutant sequence TTAACAGAAAAAGAAATATTTGAAA A GTATGTTCTTTGAATACCTTACTTA


External sources:

Not found		dbSNP
rs397508300




Response to modulators:


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


clinical and functional data are provided by Vertex


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
0.55 0
no class no class VUS1 VUS1

Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



No patient found in CFTR-NGS catalogue

No patient found in CFTR-France



            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.