Variant NM_000492.4:c.4056G>T


Variant details:
Name NM_000492.4:c.4056G>T
Protein name NP_000483.3:p.(Gln1352His)
Genomic name (hg19) chr7:g.117304834G>T    UCSC    
#Exon/intron exon 25
Legacy Name Q1352H(G>T)
Class disease-causing
Subclass CFTR-RD-causing
complex allele in 40.00% of patients associated with
  • c.2421A>G - p.(Ile807Met) : 100.00%
    • WT sequence GTGTCCTAAGCCATGGCCACAAGCA G TTGATGTGCTTGGCTAGATCTGTTC
    Mutant sequence GTGTCCTAAGCCATGGCCACAAGCA T TTGATGTGCTTGGCTAGATCTGTTC

    Other databases:

    Not found    		dbSNP
    rs113857788



    Pathogenicity predictors:





    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 5
    Asymptomatic compound heterozygote 1
    CFTR-RD4
    • CBAVD  4




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

    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CBAVD 927heterozygoteCFTR-RD-causing - Cis
    CF-causing - Trans
    CBAVD 1495heterozygoteCF-causing- Undef
    CBAVD 4247heterozygoteCF-causing- Undef
    CFTR-RD-causing- Undef
    CBAVD 4248heterozygoteCF-causing- Undef
    CFTR-RD-causing- Undef
    Asymptomatic compound heterozygote 932heterozygoteCFTR-RD-causing - Cis
    CF-causing - Trans


    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.



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