Variant NM_000492.4:c.1210-34_1210-6TG[13]T[5]


Variant details:
Name NM_000492.4:c.1210-34_1210-6TG[13]T[5]
#Exon/intron intron 9
Legacy Name TG13T5
Class disease-causing
Subclass varying clinical consequence
complex allele in 8.51% of patients associated with
  • c.3705T>G - p.(Ser1235Arg) : 100.00%







    • External sources:

    Not found    		 dbSNP
    no rs
    Not found
    Not found







    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 94
    Asymptomatic compound heterozygote 4
    CF 7
    CFTR-RD80
    • CBAVD  70
    • Other  7
    • Pancreatitis  3
    Pending 1
    Pending (NBS) 2



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CBAVD 1504heterozygoteCFTR-RD-causing- Undef
    CBAVD 2040heterozygoteVUS3- Undef
    CBAVD 2060heterozygoteCF-causing - Trans
    CBAVD 2114heterozygoteCF-causing - Trans
    CBAVD 2232heterozygoteCF-causing - Trans
    CBAVD 2582heterozygoteCFTR-RD-causing- Undef
    VUS4- Undef
    CBAVD 4932heterozygoteCF-causing - Trans
    VUS1- Undef
    CBAVD 4944heterozygoteCF-causing- Undef
    CBAVD 5704heterozygoteCF-causing- Undef
    CBAVD 1505heterozygoteCF-causing - Trans
    CBAVD 1506heterozygoteCF-causing - Trans
    CBAVD 4971heterozygoteCF-causing - Cis
    CF-causing - Trans
    CBAVD 1801heterozygoteVUS3 - Trans
    CBAVD 5049heterozygoteVUS3- Undef
    CBAVD 1908heterozygoteVUS1 - Cis
    CF-causing - Trans
    CBAVD 5393heterozygoteCF-causing- Undef
    CBAVD 2683heterozygoteCF-causing - Trans
    CBAVD 3334heterozygoteVUS1 - Cis
    CFTR-RD-causing - Trans
    CBAVD 3369heterozygoteVUS1 - Cis
    CF-causing - Trans
    CBAVD 5591heterozygoteCFTR-RD-causing - Trans
    CBAVD 5325heterozygoteVUS3 - Cis
    VUS3 - Trans
    VUS3 - Trans
    CBAVD 5765heterozygoteCF-causing- Undef
    VUS3- Undef
    CBAVD 5766heterozygoteCFTR-RD-causing - Trans
    VUS3- Undef
    CBAVD 3332heterozygoteVUS1 - Cis
    varying clinical consequence - Trans
    CBAVD 3295heterozygoteCFTR-RD-causing - Trans
    CBAVD 3293heterozygoteCF-causing - Trans
    CBAVD 2816heterozygoteCF-causing - Trans
    CBAVD 4622heterozygoteCF-causing - Trans
    CBAVD 4663heterozygoteVUS3- Undef
    CF-causing- Undef
    CBAVD 4755heterozygoteCF-causing - Trans
    CBAVD 2976heterozygoteCF-causing - Trans
    VUS1- Undef
    CBAVD 3280heterozygoteCF-causing- Undef
    CBAVD 3291heterozygoteCF-causing - Trans
    CBAVD 4599heterozygoteCFTR-RD-causing - Cis
    CFTR-RD-causing - Trans
    CBAVD 81heterozygoteCF-causing - Trans
    CBAVD 656heterozygoteCF-causing- Undef
    CBAVD 786heterozygoteCF-causing - Trans
    CBAVD 837heterozygoteCF-causing - Trans
    CBAVD 859heterozygoteCF-causing - Trans
    CBAVD 894heterozygoteVUS3 - Trans
    CBAVD 4828heterozygoteCF-causing- Undef
    CBAVD 5521heterozygotevarying clinical consequence- Undef
    CBAVD 653heterozygoteCFTR-RD-causing - Trans
    varying clinical consequence- Undef
    CBAVD 4707heterozygoteCF-causing- Undef
    CBAVD 4956heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    CBAVD 397heterozygoteCF-causing - Trans
    CBAVD 426heterozygoteCF-causing - Trans
    CBAVD 470heterozygoteVUS1 - Cis
    CF-causing - Trans
    CBAVD 474heterozygoteVUS1 - Cis
    CF-causing - Trans
    CBAVD 493heterozygoteCF-causing - Trans
    CBAVD 1410heterozygoteCF-causing- Undef
    CBAVD 1417heterozygoteCF-causing - Trans
    CBAVD 1426heterozygoteCF-causing - Trans
    CBAVD 1427heterozygoteCF-causing - Trans
    CBAVD 1431heterozygoteCF-causing- Undef
    CBAVD 1441heterozygoteCF-causing - Trans
    CBAVD 1443heterozygoteCF-causing - Trans
    CBAVD 1445heterozygoteVUS3- Undef
    CBAVD 1450heterozygoteCF-causing - Trans
    CBAVD 1404heterozygoteCF-causing - Trans
    CBAVD 1352heterozygote
    CBAVD 1333heterozygoteCF-causing - Trans
    CBAVD 1264heterozygoteCF-causing - Trans
    CBAVD 1267heterozygoteCF-causing - Trans
    CBAVD 1274heterozygoteCF-causing - Trans
    CBAVD 1482heterozygoteCFTR-RD-causing- Undef
    CBAVD 1318heterozygoteCF-causing - Trans
    CBAVD 1281homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CBAVD 3357homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CBAVD 2238homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CF 2597heterozygoteCF-causing- Undef
    CF-causing- Undef
    CF 5373heterozygoteCF-causing- Undef
    CF 2672heterozygoteCFTR-RD-causing - Trans
    CF 570heterozygoteCF-causing - Trans
    CF 4732heterozygoteCF-causing - Trans
    CF 1317heterozygoteCF-causing - Trans
    CF 4871heterozygoteCF-causing - Trans
    Other 2544heterozygoteCF-causing - Trans
    Other 5701heterozygotevarying clinical consequence- Undef
    Other 5677heterozygoteCF-causing - Trans
    Other 5671heterozygoteCF-causing - Trans
    Other 87heterozygoteCF-causing - Trans
    Other 5128heterozygoteCF-causing - Trans
    Other 1089heterozygote
    Pending (NBS) 646heterozygoteCF-causing - Trans
    Pending (NBS) 1255heterozygoteCF-causing - Trans
    Pancreatitis 5339heterozygoteVUS3- Undef
    CFTR-RD-causing- Undef
    Pancreatitis 5949heterozygoteVUS1 - Cis
    CF-causing - Trans
    VUS3- Undef
    Pancreatitis 776heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 3333heterozygoteVUS1 - Cis
    varying clinical consequence - Trans
    Asymptomatic compound heterozygote 3020heterozygoteVUS1 - Cis
    CF-causing - Trans
    Asymptomatic compound heterozygote 3031heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 817heterozygoteVUS3 - Trans
    Pending 1097heterozygoteVUS4 - Trans


    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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