Variant NM_000492.4:c.3080T>C


Variant details:
Name NM_000492.4:c.3080T>C
Protein name NP_000483.3:p.(Ile1027Thr)
Genomic name (hg19) chr7:g.117250664T>C    UCSC    
#Exon/intron exon 19
Legacy Name I1027T
Class likely benign
complex allele in 35.42% of patients associated with
  • c.1521_1523del - p.(Phe508del) : 100.00%
    • WT sequence ACAGTGCCAGTGATAGTGGCTTTTA T TATGTTGAGAGCATATTTCCTCCAA
    Mutant sequence ACAGTGCCAGTGATAGTGGCTTTTA C TATGTTGAGAGCATATTTCCTCCAA

    Other databases:
    dbSNP
    rs1800112



    Pathogenicity predictors:

    Functional studies:


    Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
    Sosnay et al, 2013 23974870 ✓ ✓


    « ✓ » indicates the type of analysis performed and not the results


    Response to modulators:


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


    clinical and functional data are provided by Vertex


    1 individuals carrying this variant are reported in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 48
    CF 24
    CFTR-RD22
    • Bronchiectasis  2
    • CBAVD  13
    • Other  3
    • Pancreatitis  4
    Pending 1
    Pending (NBS) 1




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



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



    Go to CFTRare