Variant NM_000492.4:c.547C>A


Variant details:
Name NM_000492.4:c.547C>A
Protein name NP_000483.3:p.(Leu183Ile)
Genomic name (hg19) chr7:g.117174387C>A    UCSC    gnomAD
#Exon/intron exon 5
Legacy Name L183I
Class VUS
WT sequence AATAAGTATTGGACAACTTGTTAGT C TCCTTTCCAACAACCTGAACAAATT
Mutant sequence AATAAGTATTGGACAACTTGTTAGT A TCCTTTCCAACAACCTGAACAAATT


External sources:

Not found		dbSNP
rs397508751






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
0 1
no class no class VUS5 VUS5

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
CF 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CF 5051heterozygoteVUS3- 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.