Variant NM_000492.4:c.1210-34_1210-6TG[9]T[9]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[9]T[9]
#Exon/intron intron 9
Legacy Name TG9T9
Class non disease-causing
complex allele in 16.67% of patients associated with
  • c.617T>G - p.(Leu206Trp) : 100.00%







    • External sources:

    Not found
    Not found    		dbSNP
    no rs
    Not found
    Not found







    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 42
    CF 6
    CFTR-RD27
    • Bronchiectasis  3
    • CBAVD  21
    • Other  1
    • Pancreatitis  2
    Pending 1
    Pending (NBS) 8



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CBAVD 1056heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 5221heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 978heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 1163heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 4592heterozygotevarying clinical consequence - Cis
    CFTR-RD-causing - Trans
    CBAVD 1438heterozygoteCFTR-RD-causing - Trans
    varying clinical consequence- Undef
    CBAVD 1413heterozygoteCFTR-RD-causing - Trans
    varying clinical consequence- Undef
    CBAVD 912heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 881heterozygoteVUS3 - Trans
    varying clinical consequence- Undef
    CBAVD 490heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 434heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    CBAVD 491heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 548heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 583heterozygoteCFTR-RD-causing - Trans
    VUS4- Undef
    CBAVD 857heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 840heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 834heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 765heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 643heterozygoteCFTR-RD-causing - Trans
    varying clinical consequence- Undef
    CBAVD 614heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CBAVD 4679heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    Bronchiectasis 4602heterozygoteCFTR-RD-causing - Trans
    varying clinical consequence- Undef
    Bronchiectasis 1096heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Bronchiectasis 4726heterozygoteCFTR-RD-causing- Undef
    varying clinical consequence- Undef
    Pending (NBS) 4769heterozygoteCF-causing - Trans
    varying clinical consequence- Undef
    Pending (NBS) 1180heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pending (NBS) 5342heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    Pending (NBS) 4654heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    Pending (NBS) 1547heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    Pending (NBS) 4821heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pending (NBS) 799heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pending (NBS) 794heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CF 4782heterozygotevarying clinical consequence - Cis
    CF-causing - Trans
    CF 5132heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CF 5622heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CF 313heterozygoteCF-causing- Undef
    CFTR-RD-causing- Undef
    varying clinical consequence- Undef
    CF 280heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    CF 277heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pending 312heterozygoteCFTR-RD-causing - Trans
    Other 5813heterozygoteCFTR-RD-causing- Undef
    varying clinical consequence- Undef
    Pancreatitis 1063heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pancreatitis 3259heterozygotevarying clinical consequence- Undef
    CF-causing- 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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