Variant NM_000492.4:c.1601C>A


Variant details:
Name NM_000492.4:c.1601C>A
Protein name NP_000483.3:p.(Ala534Glu)
Genomic name (hg19) chr7:g.117227809C>A    UCSC    gnomAD
#Exon/intron exon 12
Legacy Name A534E
Class VUS
Subclass VUS2
WT sequence TGGTAATAGGACATCTCCAAGTTTG C AGAGAAAGACAATATAGTTCTTGGA
Mutant sequence TGGTAATAGGACATCTCCAAGTTTG A AGAGAAAGACAATATAGTTCTTGGA


External sources:

Not found		dbSNP
rs387906368






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C35 2e-05 0.04 0.098
VUS2 VUS5 VUS5 VUS1

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 4
Asymptomatic compound heterozygote 2
CFTR-RD2
  • CBAVD  1
  • Other  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 4839heterozygoteCF-causing - Trans
Asymptomatic compound heterozygote 4829heterozygoteCF-causing- Undef
CBAVD 4529heterozygoteCF-causing- Undef
VUS4- Undef
Other 4572heterozygote


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.