Updates for c.1210-34_1210-6TG[13]T[5]:
2018-09-28 variant's name changed from c.[1210-34TG[13];1210-12T[5]] to c.1210-34_1210-6TG[13]T[5]
2024-10-14 Class updated from varying clinical consequence to disease-causing - varying clinical consequence (low penetrance of CF)
2024-12-09 Variant classified as varying clinical consequence (low penetrance of CF) on the basis of epidemiological data (in particular high frequency in the general population), the number and type of diagnosis for patients reported in CFTR-France and functional data




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 7.41% of patients associated with
  • c.3705T>G - p.(Ser1235Arg) : 100.00%

    • Other databases:

    Not found    		 dbSNP
    no rs








    Pathogenicity predictors:

    Not found
    Not found





    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 108
    Asymptomatic compound heterozygote 5
    CF 7
    CFTR-RD91
    • Bronchiectasis  1
    • CBAVD  78
    • CRS-NP  1
    • Other  8
    • Pancreatitis  3
    Pending 1
    Pending (NBS) 4




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

    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CBAVD 4971heterozygoteCF-causing - Cis
    CF-causing - Trans
    CBAVD 2040heterozygoteVUS3- Undef
    CBAVD 2060heterozygoteCF-causing - Trans
    CBAVD 2114heterozygoteCF-causing - Trans
    CBAVD 2232heterozygoteCF-causing - Trans
    CBAVD 2582heterozygoteCFTR-RD-causing- Undef
    VUS3- Undef
    CBAVD 4932heterozygoteCF-causing - Trans
    CBAVD 4944heterozygoteCF-causing- Undef
    CBAVD 2683heterozygoteCF-causing - Trans
    CBAVD 6398heterozygoteCF-causing- Undef
    CBAVD 1801heterozygoteCFTR-RD-causing - Trans
    CBAVD 5049heterozygoteVUS3- Undef
    CBAVD 1908heterozygoteCF-causing - Trans
    CBAVD 5393heterozygoteCF-causing- Undef
    CBAVD 5704heterozygoteCF-causing- Undef
    CBAVD 6392heterozygoteCF-causing- Undef
    CBAVD 2816heterozygoteCF-causing - Trans
    CBAVD 4622heterozygoteCF-causing - Trans
    CBAVD 5591heterozygoteCFTR-RD-causing - Trans
    CBAVD 5325heterozygoteCF-causing - Trans
    CBAVD 5765heterozygoteCF-causing- Undef
    CBAVD 5766heterozygoteCFTR-RD-causing - Trans
    CBAVD 6320heterozygoteCF-causing- Undef
    CBAVD 4599heterozygoteCFTR-RD-causing - Cis
    CFTR-RD-causing - Trans
    CBAVD 6322heterozygotelikely CFTR-RD- Undef
    CBAVD 6463heterozygoteCF-causing- Undef
    CBAVD 3369heterozygoteCF-causing - Trans
    CBAVD 3334heterozygoteCFTR-RD-causing - Trans
    CBAVD 4663heterozygoteCF-causing- Undef
    CBAVD 4755heterozygoteCF-causing - Trans
    CBAVD 2976heterozygoteCF-causing - Trans
    CBAVD 3280heterozygoteCF-causing- Undef
    CBAVD 3291heterozygoteCF-causing - Trans
    CBAVD 3293heterozygoteCF-causing - Trans
    CBAVD 3295heterozygoteCFTR-RD-causing - Trans
    CBAVD 3332heterozygotevarying clinical consequence - Trans
    CBAVD 6472heterozygoteCF-causing- Undef
    VUS3- Undef
    CBAVD 4707heterozygoteCF-causing- Undef
    CBAVD 786heterozygoteCF-causing - Trans
    CBAVD 837heterozygoteCF-causing - Trans
    CBAVD 894heterozygoteVUS3 - Trans
    CBAVD 4828heterozygoteCF-causing- Undef
    CBAVD 5521heterozygotevarying clinical consequence- Undef
    CBAVD 656heterozygoteCF-causing- Undef
    CBAVD 81heterozygoteCF-causing - Trans
    CBAVD 4956heterozygoteVUS3- Undef
    CBAVD 397heterozygoteCF-causing - Trans
    CBAVD 426heterozygoteCF-causing - Trans
    CBAVD 470heterozygoteCF-causing - Trans
    CBAVD 474heterozygoteCF-causing - Trans
    CBAVD 493heterozygoteCF-causing - Trans
    CBAVD 653heterozygoteCFTR-RD-causing - Trans
    varying clinical consequence- Undef
    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 1482heterozygoteCFTR-RD-causing- Undef
    CBAVD 1504heterozygoteCFTR-RD-causing- Undef
    CBAVD 1505heterozygoteCF-causing - Trans
    CBAVD 1506heterozygoteCF-causing - Trans
    CBAVD 1417heterozygoteCF-causing - Trans
    CBAVD 1410heterozygoteCF-causing- Undef
    CBAVD 1404heterozygoteCF-causing - Trans
    CBAVD 859heterozygoteCF-causing - Trans
    CBAVD 1267heterozygoteCF-causing - Trans
    CBAVD 1318heterozygoteCF-causing - Trans
    CBAVD 1264heterozygoteCF-causing - Trans
    CBAVD 1333heterozygoteCF-causing - Trans
    CBAVD 1352heterozygote
    CBAVD 1274heterozygoteCF-causing - Trans
    CBAVD 6468homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CBAVD 2238homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CBAVD 1281homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CBAVD 6249homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CBAVD 3357homozygotec.1210-34_1210-6TG[13]T[5] - Trans
    CF 2597heterozygoteCF-causing- Undef
    CF-causing- Undef
    CF 2672heterozygoteCFTR-RD-causing - Trans
    CF 5373heterozygoteCF-causing- Undef
    CF 4732heterozygoteCF-causing - Trans
    CF 570heterozygoteCF-causing - Trans
    CF 1317heterozygoteCF-causing - Trans
    CF 4871heterozygoteCF-causing - Trans
    Other 2544heterozygoteCF-causing - Trans
    Other 5671heterozygoteCF-causing - Trans
    Other 5677heterozygoteCF-causing - Trans
    Other 5701heterozygotevarying clinical consequence- Undef
    Other 6355heterozygoteCF-causing - Trans
    Other 5128heterozygoteCF-causing - Trans
    Other 87heterozygoteCF-causing - Trans
    Other 1089heterozygote
    Pending (NBS) 6397heterozygoteCF-causing- Undef
    Pending (NBS) 6333heterozygoteCFTR-RD-causing - Trans
    Pending (NBS) 646heterozygoteCF-causing - Trans
    Pending (NBS) 1255heterozygoteCF-causing - Trans
    Pancreatitis 5339heterozygoteCFTR-RD-causing- Undef
    Pancreatitis 5949heterozygoteCF-causing - Trans
    Pancreatitis 776heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 6440heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 3020heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 3031heterozygoteCF-causing - Trans
    Asymptomatic compound heterozygote 3333heterozygotevarying clinical consequence - Trans
    Asymptomatic compound heterozygote 817heterozygoteCFTR-RD-causing - Trans
    Bronchiectasis 6350heterozygoteCF-causing- Undef
    Pending 1097heterozygoteVUS3 - Trans
    CRS-NP 6279heterozygoteCF-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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