Variant NM_000492.4:c.4097T>C


Variant details:
Name NM_000492.4:c.4097T>C
Protein name NP_000483.3:p.(Ile1366Thr)
Genomic name (hg19) chr7:g.117304875T>C    UCSC    gnomAD
#Exon/intron exon 25
Legacy Name I1366T
Class disease-causing
Subclass CFTR-RD-causing
WT sequence AGATCTGTTCTCAGTAAGGCGAAGA T CTTGCTGCTTGATGAACCCAGTGCT
Mutant sequence AGATCTGTTCTCAGTAAGGCGAAGA C CTTGCTGCTTGATGAACCCAGTGCT


External sources:

Not found		dbSNP
rs200955612






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C65 0.00026 0 1
VUS5 VUS5 VUS5 VUS5

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




No patient found in CFTR-NGS catalogue


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

TOTAL NUMBER OF PATIENTS 10
CFTR-RD8
  • CBAVD  4
  • Other  1
  • Pancreatitis  3
Pending non-CF 2



Detailed genotypes:
Phenotype Patient ID Variant status Additional variants
CBAVD 720heterozygote
CBAVD 3362heterozygoteCF-causing- Undef
CBAVD 3354heterozygoteCF-causing- Undef
CBAVD 1276heterozygoteVUS3- Undef
Other 5187heterozygoteCF-causing - Trans
Pancreatitis 5891heterozygoteVUS3- Undef
VUS1- Undef
Pancreatitis 5860heterozygoteVUS4- Undef
Pancreatitis 5010heterozygoteCFTR-RD-causing- Undef
Pending non-CF 4632heterozygoteCF-causing - Trans
Pending non-CF 5021heterozygoteCF-causing - Trans


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.