Variant NM_000492.4:c.3689T>C


Variant details:
Name NM_000492.4:c.3689T>C
Protein name NP_000483.3:p.(Ile1230Thr)
Genomic name (hg19) chr7:g.117267796T>C    UCSC    gnomAD
#Exon/intron exon 22
Legacy Name I1230T
Class VUS
Subclass VUS3
WT sequence GGTGGAAATGCCATATTAGAGAACA T TTCCTTCTCAATAAGTCCTGGCCAG
Mutant sequence GGTGGAAATGCCATATTAGAGAACA C TTCCTTCTCAATAAGTCCTGGCCAG


External sources:

Not found		dbSNP
rs775263210






Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C65 0.00014 0.01 0.873
VUS5 VUS5 VUS5 VUS4

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



No patient found in CFTR-NGS catalogue

No patient found in CFTR-France



            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.