Variant NM_000492.4:c.2249C>T


Variant details:
Name NM_000492.4:c.2249C>T
Protein name NP_000483.3:p.(Pro750Leu)
Genomic name (hg19) chr7:g.117232470C>T    UCSC    gnomAD
#Exon/intron exon 14
Legacy Name P750L
Class disease-causing
Subclass CFTR-RD-causing
WT sequence TCTGAGCAGGGAGAGGCGATACTGC C TCGCATCAGCGTGATCAGCACTGGC
Mutant sequence TCTGAGCAGGGAGAGGCGATACTGC T TCGCATCAGCGTGATCAGCACTGGC


External sources:
dbSNP
rs140455771






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C15 0.00083 0.05 0.023
VUS1 VUS5 VUS4 VUS1

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 8
Asymptomatic compound heterozygote 1
CFTR-RD7
  • Bronchiectasis  1
  • CBAVD  5
  • Pancreatitis  1



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 4843heterozygotenon-CF - Trans
CBAVD 774heterozygoteCF-causing - Trans
CBAVD 1507heterozygoteCF-causing- Undef
CBAVD 5392heterozygoteCFTR-RD-causing- Undef
CBAVD 5460heterozygoteVUS2 - Trans
CF-causing - Trans
VUS3 - Trans
CBAVD 4264heterozygoteCF-causing- Undef
Bronchiectasis 5111heterozygoteCF-causing- Undef
Pancreatitis 2978heterozygote


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.