Variant NM_000492.4:c.2989-313A>T


Variant details:
Name NM_000492.4:c.2989-313A>T
Protein name NP_000483.3:p.(=)
Genomic name (hg19) chr7:g.117250260A>T    UCSC    gnomAD
#Exon/intron intron 18
Class disease-causing
Subclass varying clinical consequence
complex allele in 42.86% of patients associated with
  • c.627A>G - p.(=) : 100.00%
    • WT sequence AACAATGAGATCACATGGACACAGG A AGGGGAATATCACACTCTGGGGACT
    Mutant sequence AACAATGAGATCACATGGACACAGG T AGGGGAATATCACACTCTGGGGACT






    External sources:

    Not found
    Not found    		dbSNP
    no rs
    Not found


    Functional studies:


    Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
    Bergougnoux et al, 2018 30389601 ✓


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





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


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

    TOTAL NUMBER OF PATIENTS 7
    CF 4
    CFTR-RD1
    • Other  1
    Pending 1
    Pending (NBS) 1



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CF 829heterozygoteVUS3 - Cis
    CF-causing - Trans
    CF 5469heterozygoteCF-causing- Undef
    CF 4965heterozygoteCF-causing- Undef
    VUS3- Undef
    CF 4964heterozygoteCF-causing- Undef
    VUS3- Undef
    Pending 5804heterozygoteVUS3 - Cis
    VUS3 - Trans
    VUS1 - Trans
    Pending (NBS) 5803heterozygoteVUS3 - Cis
    CF-causing - Trans
    Other 4963heterozygoteCF-causing- Undef
    VUS3- Undef


    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.



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