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    
Genomic name (hg38) chr7:g.117592416C>T    UCSC
#Exon/intron exon 14
Legacy Name P750L
Class disease-causing
Subclass CFTR-RD-causing
WT sequence TCTGAGCAGGGAGAGGCGATACTGC C TCGCATCAGCGTGATCAGCACTGGC
Mutant sequence TCTGAGCAGGGAGAGGCGATACTGC T TCGCATCAGCGTGATCAGCACTGGC

Other databases:
dbSNP
rs140455771



Pathogenicity predictors:




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 9
Asymptomatic compound heterozygote 1
CFTR-RD7
  • Bronchiectasis  1
  • CBAVD  5
  • Pancreatitis  1
Pending (NBS) 1




Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing

Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
Asymptomatic compound heterozygote 4843heterozygoteCFTR-RD-causing - Cis
VUS3 - Trans
CBAVD 774heterozygoteCFTR-RD-causing - Cis
CF-causing - Trans
CBAVD 1507heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
CBAVD 5392heterozygoteCFTR-RD-causing - Cis
CFTR-RD-causing- Undef
CBAVD 5460heterozygoteCFTR-RD-causing - Cis
VUS2 - Trans
CF-causing - Trans
VUS3 - Trans
CBAVD 4264heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Bronchiectasis 5111heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef
Pancreatitis 2978heterozygoteCFTR-RD-causing - Cis
Pending (NBS) 6027heterozygoteCF-causing- Undef
CFTR-RD-causing- Undef


Color code:   non disease-causing <   likely benign <   VUS <   likely pathogenic <   disease-causing



            CFTR variants are clustered into five groups (click here for more details about the classification of variants):
  • 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.



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