Variant NM_000492.4:c.1603G>A


Variant details:
Name NM_000492.4:c.1603G>A
Protein name NP_000483.3:p.(Glu535Lys)
Genomic name (hg19) chr7:g.117227811G>A    UCSC    gnomAD
#Exon/intron exon 12
Legacy Name E535K
Class VUS
Subclass VUS2
WT sequence GTAATAGGACATCTCCAAGTTTGCA G AGAAAGACAATATAGTTCTTGGAGA
Mutant sequence GTAATAGGACATCTCCAAGTTTGCA A AGAAAGACAATATAGTTCTTGGAGA


External sources:

Not found
Not found		dbSNP
no rs






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C15 0.24 0.15 0.872
VUS1 VUS1 VUS2 VUS4

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 1
CFTR-RD1
  • Other  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Other 1061heterozygote


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.