Variant NM_000492.4:c.1766+5G>A


Variant details:
Name NM_000492.4:c.1766+5G>A
Protein name NP_000483.3:p.(=)
Genomic name (hg19)     chr7:g.117230498G>A    UCSC    
Genomic name (hg38) chr7:g.117590444G>A    UCSC
#Exon/intron intron 13
Legacy Name 1898+5G>A
Class disease-causing
Subclass CF-causing
complex allele in 25.00% of patients associated with
  • c.2173G>A - p.(Glu725Lys) : 100.00%
    • WT sequence AGAAAAAGAAATATTTGAAAGGTAT G TTCTTTGAATACCTTACTTATAATG
    Mutant sequence AGAAAAAGAAATATTTGAAAGGTAT A TTCTTTGAATACCTTACTTATAATG

    Other databases:
    dbSNP
    no rs







    Pathogenicity predictors:

    Not found

    Functional studies:         +


    Reference PMID Splicing mRNA level Maturation Localization Channel fonction (Cl-) Bicarbonate
    Raynal et al, 2013 23381846 ✓


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



    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 4
    CF 4




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

    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CF 297heterozygoteVUS3 - Cis
    CF-causing - Trans
    CF 976heterozygoteCF-causing- Undef
    CF 2266heterozygoteCF-causing- Undef
    CF 4461heterozygoteCF-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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