Variant NM_000492.4:c.1704G>T


Variant details:
Name NM_000492.4:c.1704G>T
Protein name NP_000483.3:p.(Leu568Phe)
Genomic name (hg19) chr7:g.117230431G>T    UCSC    gnomAD
#Exon/intron exon 13
Legacy Name L568F
Class VUS
Subclass VUS5
WT sequence GAGCAGTATACAAAGATGCTGATTT G TATTTATTAGACTCTCCTTTTGGAT
Mutant sequence GAGCAGTATACAAAGATGCTGATTT T TATTTATTAGACTCTCCTTTTGGAT


External sources:

Not found		dbSNP
rs397508275






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.0186 0.03 0.993
VUS1 VUS4 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-RD3
  • Bronchiectasis  1
  • CBAVD  1
  • Pancreatitis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Bronchiectasis 4725heterozygoteCF-causing- Undef
Pancreatitis 648heterozygoteCF-causing - Trans
CBAVD 5129heterozygoteCF-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.