Variant NM_000492.4:c.1210-34_1210-6TG[11]T[5]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[11]T[5]
#Exon/intron intron 9
Legacy Name TG11T5
Class VUS
Subclass VUS3
complex allele in 4.79% of patients associated with
  • c.1684G>A - p.(Val562Ile) : 100.00%







    • External sources:

    Not found    		 dbSNP
    no rs
    Not found
    Not found







    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 188
    Asymptomatic compound heterozygote 21
    CF 10
    CFTR-RD148
    • Aquagenic palmoplantar keratoderma  3
    • Bronchiectasis  32
    • CBAVD  52
    • CRS-NP  4
    • Other  15
    • Pancreatitis  42
    Fetal bowel anomalies 3
    Pending 4
    Pending (NBS) 2



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    Asymptomatic compound heterozygote 2159heterozygoteCF-causing- Undef
    Asymptomatic compound heterozygote 2214heterozygoteCFTR-RD-causing- Undef
    CF-causing- Undef
    Asymptomatic compound heterozygote 2225heterozygoteCF-causing- Undef
    Asymptomatic compound heterozygote 2279heterozygotevarying clinical consequence - Trans
    Asymptomatic compound heterozygote 3235heterozygoteCFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 5606heterozygoteVUS1 - Cis
    CF-causing - Trans
    Asymptomatic compound heterozygote 3204heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 3191heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 5220heterozygoteVUS1- Undef
    Asymptomatic compound heterozygote 959heterozygoteCFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 958heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 5218heterozygoteVUS3 - Cis
    VUS2 - Trans
    Asymptomatic compound heterozygote 5255heterozygoteVUS2- Undef
    Asymptomatic compound heterozygote 5818heterozygoteVUS2- Undef
    Asymptomatic compound heterozygote 5745heterozygoteVUS3- Undef
    Asymptomatic compound heterozygote 4736heterozygoteCFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 4728heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 888heterozygoteVUS1 - Trans
    Asymptomatic compound heterozygote 817heterozygotevarying clinical consequence - Trans
    Asymptomatic compound heterozygote 4673heterozygoteCFTR-RD-causing - Trans
    Asymptomatic compound heterozygote 1879heterozygoteCF-causing- Undef
    Other 5763heterozygoteCF-causing- Undef
    VUS1- Undef
    Other 4539heterozygoteVUS2- Undef
    VUS1- Undef
    Other 5575heterozygoteCF-causing- Undef
    Other 2641heterozygoteCF-causing- Undef
    VUS4- Undef
    Other 5224heterozygoteVUS3- Undef
    Other 5353heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    Other 5087heterozygoteVUS3- Undef
    Other 4826heterozygoteCFTR-RD-causing - Trans
    Other 5825heterozygoteCF-causing- Undef
    VUS1- Undef
    Other 5823heterozygoteCF-causing- Undef
    VUS1- Undef
    VUS1- Undef
    Other 464heterozygoteCF-causing- Undef
    Other 5082heterozygoteCF-causing - Trans
    Other 4730heterozygotevarying clinical consequence- Undef
    Other 4686heterozygoteCF-causing - Trans
    Other 2572homozygotec.1210-34_1210-6TG[11]T[5] - Trans
    Pancreatitis 2418heterozygote
    Pancreatitis 2389heterozygote
    Pancreatitis 2351heterozygoteCFTR-RD-causing- Undef
    Pancreatitis 2326heterozygote
    Pancreatitis 2324heterozygote
    Pancreatitis 2312heterozygote
    Pancreatitis 2427heterozygote
    Pancreatitis 2432heterozygote
    Pancreatitis 2536heterozygoteVUS4- Undef
    Pancreatitis 2527heterozygote
    Pancreatitis 2488heterozygote
    Pancreatitis 2486heterozygoteVUS1- Undef
    CFTR-RD-causing- Undef
    Pancreatitis 2473heterozygoteCF-causing- Undef
    Pancreatitis 2451heterozygote
    Pancreatitis 2306heterozygote
    Pancreatitis 2162heterozygoteVUS1- Undef
    Pancreatitis 2147heterozygotevarying clinical consequence- Undef
    Pancreatitis 4581heterozygoteCF-causing- Undef
    Pancreatitis 4619heterozygoteVUS3- Undef
    Pancreatitis 4250heterozygote
    Pancreatitis 5569heterozygoteCF-causing - Trans
    Pancreatitis 3224heterozygoteCFTR-RD-causing - Trans
    VUS2- Undef
    VUS3- Undef
    Pancreatitis 4916heterozygoteVUS3- Undef
    Pancreatitis 4913heterozygoteVUS1- Undef
    Pancreatitis 4907heterozygoteCF-causing- Undef
    Pancreatitis 2919heterozygoteCFTR-RD-causing - Trans
    Pancreatitis 3014heterozygote
    Pancreatitis 3061heterozygote
    Pancreatitis 3044heterozygote
    Pancreatitis 3023heterozygote
    Pancreatitis 2591heterozygoteCFTR-RD-causing- Undef
    Pancreatitis 5142heterozygoteCF-causing- Undef
    Pancreatitis 4708heterozygoteVUS3- Undef
    Pancreatitis 625heterozygoteCFTR-RD-causing - Trans
    Pancreatitis 1920heterozygote
    Pancreatitis 5456heterozygoteVUS1 - Cis
    VUS3- Undef
    Pancreatitis 1925heterozygote
    Pancreatitis 5891heterozygoteVUS1 - Cis
    CFTR-RD-causing- Undef
    Pancreatitis 5870heterozygoteVUS1- Undef
    CFTR-RD-causing- Undef
    Pancreatitis 5779heterozygoteVUS2- Undef
    Pancreatitis 4996heterozygoteCFTR-RD-causing - Cis
    CFTR-RD-causing - Cis
    CFTR-RD-causing - Cis
    CFTR-RD-causing - Trans
    CFTR-RD-causing - Trans
    CFTR-RD-causing - Trans
    Pancreatitis 1673heterozygoteVUS1- Undef
    Fetal bowel anomalies 4738heterozygote
    Fetal bowel anomalies 607heterozygoteCF-causing - Cis
    CF-causing - Trans
    Fetal bowel anomalies 2397heterozygotevarying clinical consequence - Trans
    VUS1 - Trans
    Bronchiectasis 2574heterozygote
    Bronchiectasis 2330heterozygote
    Bronchiectasis 2419heterozygoteVUS1- Undef
    Bronchiectasis 2501heterozygoteVUS2- Undef
    Bronchiectasis 2446heterozygoteCF-causing- Undef
    Bronchiectasis 2308heterozygote
    Bronchiectasis 2168heterozygoteVUS2- Undef
    Bronchiectasis 2140heterozygote
    Bronchiectasis 2139heterozygoteCF-causing- Undef
    Bronchiectasis 2217heterozygoteVUS1- Undef
    Bronchiectasis 2303heterozygote
    Bronchiectasis 2298heterozygote
    Bronchiectasis 2291heterozygote
    Bronchiectasis 2289heterozygote
    Bronchiectasis 2287heterozygoteCF-causing- Undef
    Bronchiectasis 2080heterozygoteCFTR-RD-causing - Trans
    Bronchiectasis 2580heterozygoteVUS1- Undef
    Bronchiectasis 5972heterozygotevarying clinical consequence- Undef
    Bronchiectasis 5624heterozygoteCF-causing - Trans
    Bronchiectasis 3084heterozygoteCFTR-RD-causing - Trans
    Bronchiectasis 3038heterozygote
    Bronchiectasis 5530heterozygoteCFTR-RD-causing- Undef
    Bronchiectasis 777heterozygoteVUS1- Undef
    Bronchiectasis 4870heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    Bronchiectasis 5900heterozygoteVUS3- Undef
    Bronchiectasis 1829heterozygoteCF-causing- Undef
    Bronchiectasis 5034heterozygoteCF-causing- Undef
    Bronchiectasis 1947heterozygoteVUS3- Undef
    Bronchiectasis 5897heterozygoteVUS1 - Cis
    CFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    Bronchiectasis 1810heterozygoteVUS1- Undef
    Bronchiectasis 5001homozygotec.1210-34_1210-6TG[11]T[5] - Trans
    c.1684G>A - p.(Val562Ile) - Trans
    c.1792A>G - p.(Lys598Glu) - Trans
    Bronchiectasis 5074homozygotec.1210-34_1210-6TG[11]T[5] - Trans
    CBAVD 2404heterozygote
    CBAVD 2437heterozygoteCF-causing- Undef
    CBAVD 2211heterozygoteVUS1- Undef
    CBAVD 2090heterozygoteVUS2- Undef
    CBAVD 2255heterozygoteCF-causing- Undef
    CBAVD 5314heterozygoteCF-causing- Undef
    CBAVD 3388heterozygoteCF-causing - Trans
    CBAVD 3318heterozygoteVUS1 - Cis
    CFTR-RD-causing - Trans
    CBAVD 3286heterozygoteCF-causing - Trans
    CBAVD 5768heterozygoteCF-causing- Undef
    CBAVD 4576heterozygoteCFTR-RD-causing- Undef
    CBAVD 4651heterozygoteCF-causing- Undef
    VUS1- Undef
    CBAVD 2728heterozygoteCF-causing - Trans
    CBAVD 4931heterozygotevarying clinical consequence- Undef
    CBAVD 5022heterozygoteCFTR-RD-causing - Trans
    varying clinical consequence - Trans
    VUS3- Undef
    CBAVD 3064heterozygoteCF-causing - Trans
    CBAVD 2078heterozygoteCF-causing- Undef
    CFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CBAVD 1276heterozygoteCFTR-RD-causing- Undef
    CBAVD 949heterozygoteCF-causing- Undef
    CBAVD 919heterozygoteVUS1- Undef
    CF-causing- Undef
    CBAVD 389heterozygoteVUS1- Undef
    CBAVD 475heterozygoteVUS1- Undef
    CF-causing- Undef
    CBAVD 529heterozygoteCF-causing- Undef
    VUS4- Undef
    CBAVD 881heterozygotevarying clinical consequence- Undef
    CBAVD 781heterozygote
    CBAVD 725heterozygoteVUS1- Undef
    CF-causing- Undef
    CBAVD 676heterozygote
    CBAVD 5379heterozygoteVUS3- Undef
    CBAVD 1891heterozygoteCF-causing- Undef
    CBAVD 5286heterozygoteVUS3- Undef
    CBAVD 2039heterozygoteCF-causing- Undef
    CBAVD 1962heterozygoteCF-causing- Undef
    CBAVD 5884heterozygoteVUS3- Undef
    VUS3- Undef
    CBAVD 1818heterozygoteCF-causing- Undef
    CBAVD 1801heterozygotevarying clinical consequence - Trans
    CBAVD 1484heterozygoteCF-causing- Undef
    CBAVD 1464heterozygoteVUS1 - Cis
    CFTR-RD-causing - Trans
    CBAVD 1453heterozygoteVUS1 - Cis
    varying clinical consequence - Trans
    CBAVD 1432heterozygoteCF-causing- Undef
    CBAVD 1406heterozygoteCF-causing- Undef
    CBAVD 1394heterozygoteCFTR-RD-causing - Trans
    CBAVD 1392heterozygoteCF-causing- Undef
    CBAVD 1353heterozygoteVUS1 - Cis
    CBAVD 1342heterozygoteCF-causing- Undef
    CBAVD 1491heterozygoteVUS1 - Cis
    CF-causing - Trans
    CBAVD 1508heterozygoteCF-causing - Trans
    CBAVD 1644heterozygoteVUS2- Undef
    CF-causing- Undef
    CBAVD 1659heterozygote
    CBAVD 4987heterozygoteCF-causing- Undef
    CBAVD 4982heterozygoteCF-causing- Undef
    CBAVD 908homozygotec.1210-34_1210-6TG[11]T[5] - Trans
    c.1466C>T - p.(Ser489Leu) - Trans
    c.1684G>A - p.(Val562Ile) - Trans
    CBAVD 440homozygotec.1210-34_1210-6TG[11]T[5] - Trans
    CF 4538heterozygoteCF-causing - Cis
    CF-causing - Trans
    CF 5777heterozygoteVUS3 - Cis
    CF-causing - Trans
    CF 4942heterozygoteVUS1 - Cis
    CF 1285heterozygoteCF-causing - Cis
    VUS1 - Cis
    CF-causing - Trans
    CF 5215heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CF 2045heterozygoteCF-causing- Undef
    CF 5374heterozygoteVUS1 - Cis
    CF-causing - Cis
    CF-causing - Trans
    CF 5672heterozygoteCF-causing - Cis
    VUS1 - Cis
    CF-causing - Trans
    CF 4861heterozygoteVUS3 - Cis
    CF-causing - Trans
    CF 780homozygotec.1210-34_1210-6TG[11]T[5] - Trans
    c.1684G>A - p.(Val562Ile) - Trans
    c.2215del - p.(Val739Tyrfs*16) - Trans
    Pending (NBS) 4409heterozygoteVUS1 - Cis
    CF-causing - Trans
    Pending (NBS) 5247heterozygoteVUS3 - Cis
    CF-causing - Trans
    VUS1 - Trans
    Aquagenic palmoplantar keratoderma 5822heterozygoteVUS1- Undef
    Aquagenic palmoplantar keratoderma 5302heterozygoteCFTR-RD-causing- Undef
    Aquagenic palmoplantar keratoderma 5149heterozygoteCF-causing- Undef
    Pending 5804heterozygoteVUS1 - Cis
    varying clinical consequence - Trans
    VUS3 - Trans
    Pending 2228heterozygoteCF-causing- Undef
    Pending 2273heterozygoteCF-causing - Trans
    Pending 5588heterozygoteCF-causing - Trans
    CRS-NP 2189heterozygoteCF-causing- Undef
    CRS-NP 3078heterozygoteCF-causing - Trans
    CRS-NP 3126heterozygoteCFTR-RD-causing - Trans
    CRS-NP 4276heterozygote


    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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