Variant NM_000492.4:c.571T>G


Variant details:
Name NM_000492.4:c.571T>G
Protein name NP_000483.3:p.(Phe191Val)
Genomic name (hg19) chr7:g.117174411T>G    UCSC    gnomAD
#Exon/intron exon 5
Legacy Name F191V
Class disease-causing
WT sequence TCTCCTTTCCAACAACCTGAACAAA T TTGATGAAGTATGTACCTATTGATT
Mutant sequence TCTCCTTTCCAACAACCTGAACAAA G TTGATGAAGTATGTACCTATTGATT


External sources:

Not found		 dbSNP
rs141482808




Response to modulators:


Modulator FDA approval EMA approval in vitro / ex vivo data clinical data
IVAnononono
TEZ-IVA yesnoyesno
ELX-TEZ-IVA yesnoyesno


clinical and functional data are provided by Vertex


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.2001 0.68 0.949
VUS1 VUS1 VUS1 VUS5

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
CF 1
CFTR-RD2
  • CBAVD  1
  • Pancreatitis  1
Pending (NBS) 1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Pending (NBS) 5359heterozygoteCF-causing - Trans
CF 5367heterozygoteCF-causing - Trans
CBAVD 2040heterozygotevarying clinical consequence- Undef
Pancreatitis 5611heterozygoteCFTR-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.