Variant NM_000492.4:c.1210-12T[5]


Variant details:
Name NM_000492.4:c.1210-12T[5]
#Exon/intron intron 9
Legacy Name poly-T tract variations
Class disease-causing
Subclass varying clinical consequence
complex allele in 1.43% of patients associated with
  • c.1684G>A - p.(Val562Ile) : 100.00%







    • External sources:
    dbSNP
    rs1805177
    Not found
    Not found







    No patient found in CFTR-NGS catalogue


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

    TOTAL NUMBER OF PATIENTS 70
    Asymptomatic compound heterozygote 1
    CF 5
    CFTR-RD61
    • Bronchiectasis  4
    • CBAVD  42
    • Other  6
    • Pancreatitis  9
    Pending 2
    Pending (NBS) 1



    Detailed genotypes:
    Phenotype Patient ID Variant status Additional variants
    CBAVD 4543heterozygoteVUS4- Undef
    CBAVD 2150heterozygotevarying clinical consequence- Undef
    CBAVD 2032heterozygoteCF-causing- Undef
    CBAVD 2014heterozygoteCF-causing- Undef
    CBAVD 1979heterozygoteCFTR-RD-causing- Undef
    CBAVD 1864heterozygoteCF-causing- Undef
    CBAVD 1855heterozygoteVUS4- Undef
    CBAVD 1798heterozygoteCF-causing- Undef
    CBAVD 1796heterozygoteCF-causing- Undef
    CBAVD 1780heterozygoteCF-causing- Undef
    CBAVD 1706heterozygoteVUS1- Undef
    CBAVD 2222heterozygoteCF-causing- Undef
    CBAVD 4540heterozygoteCF-causing- Undef
    CBAVD 4333heterozygoteVUS1- Undef
    VUS1- Undef
    CBAVD 4223heterozygoteCF-causing- Undef
    CBAVD 5565heterozygoteCFTR-RD-causing- Undef
    CF-causing- Undef
    CBAVD 3270heterozygoteCF-causing- Undef
    CBAVD 2634heterozygotevarying clinical consequence- Undef
    CBAVD 2516heterozygoteCF-causing- Undef
    CBAVD 1691heterozygoteCF-causing- Undef
    CBAVD 1680heterozygoteCF-causing- Undef
    CBAVD 1674heterozygoteCF-causing- Undef
    CBAVD 1066heterozygoteCF-causing- Undef
    CBAVD 1052heterozygotevarying clinical consequence- Undef
    CBAVD 1030heterozygoteCFTR-RD-causing- Undef
    CBAVD 589heterozygoteCF-causing- Undef
    CBAVD 571heterozygoteCF-causing- Undef
    CBAVD 539heterozygoteCF-causing - Trans
    CBAVD 537heterozygoteCF-causing - Trans
    CBAVD 530heterozygoteCF-causing- Undef
    CBAVD 481heterozygoteCF-causing- Undef
    CBAVD 400heterozygoteCF-causing - Trans
    VUS1- Undef
    CBAVD 1664heterozygoteVUS1- Undef
    CBAVD 1663heterozygoteCF-causing- Undef
    CBAVD 1660heterozygoteCF-causing- Undef
    CBAVD 1627heterozygoteCF-causing- Undef
    CBAVD 1616heterozygotevarying clinical consequence- Undef
    CBAVD 65heterozygoteCF-causing - Trans
    CBAVD 1177heterozygote
    CBAVD 1720homozygotec.1210-12T[5] - Trans
    CBAVD 2456homozygotec.1210-12T[5] - Trans
    CBAVD 1816homozygotec.1210-12T[5] - Trans
    CF 1699heterozygoteCF-causing- Undef
    CF 1698heterozygoteCF-causing- Undef
    CF 383heterozygoteCF-causing - Cis
    CF-causing - Trans
    CF 257heterozygoteCF-causing - Trans
    CF 114heterozygoteVUS3 - Trans
    Other 1073heterozygoteCF-causing- Undef
    Other 4798heterozygoteCF-causing- Undef
    Other 1024heterozygoteCF-causing- Undef
    Other 1124heterozygoteCFTR-RD-causing- Undef
    CFTR-RD-causing- Undef
    Other 1134heterozygoteCF-causing- Undef
    Other 1184heterozygoteCFTR-RD-causing- Undef
    Bronchiectasis 4474heterozygote
    Bronchiectasis 1120heterozygote
    Bronchiectasis 1631heterozygoteCF-causing- Undef
    Bronchiectasis 4868heterozygoteCF-causing- Undef
    varying clinical consequence- Undef
    Pancreatitis 2000heterozygoteCF-causing- Undef
    Pancreatitis 4299heterozygoteCF-causing- Undef
    Pancreatitis 3016heterozygote
    Pancreatitis 2652heterozygote
    Pancreatitis 2441heterozygoteCFTR-RD-causing- Undef
    Pancreatitis 1656heterozygote
    Pancreatitis 1597heterozygoteCF-causing- Undef
    Pancreatitis 1940homozygotec.1210-12T[5] - Trans
    c.1684G>A - p.(Val562Ile) - Trans
    Pancreatitis 1915homozygotec.1210-12T[5] - Trans
    Pending 2174heterozygoteCF-causing - Trans
    Pending 2805heterozygote
    Pending (NBS) 2212heterozygoteCFTR-RD-causing- Undef
    Asymptomatic compound heterozygote 4235heterozygoteCF-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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