Variant NM_000492.4:c.4297G>A


Variant details:
Name NM_000492.4:c.4297G>A
Protein name NP_000483.3:p.(Glu1433Lys)
Genomic name (hg19) chr7:g.117307016G>A    UCSC    gnomAD
#Exon/intron exon 27
Legacy Name E1433K
Class VUS
Subclass VUS4
WT sequence CGATTCCATCCAGAAACTGCTGAAC G AGAGGAGCCTCTTCCGGCAAGCCAT
Mutant sequence CGATTCCATCCAGAAACTGCTGAAC A AGAGGAGCCTCTTCCGGCAAGCCAT


External sources:

Not found
Not found		dbSNP
rs750559671






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C55 0.00023 0 1
VUS5 VUS5 VUS5 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 3
CFTR-RD2
  • Aquagenic palmoplantar keratoderma  1
  • CBAVD  1
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pending (NBS) 5356heterozygoteCF-causing - Trans
CBAVD 3373heterozygotevarying clinical consequence- Undef
Aquagenic palmoplantar keratoderma 5086heterozygoteCFTR-RD-causing- Undef
CFTR-RD-causing- Undef


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