catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117227865C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1657C>T
Protein name NP_000483.3:p.(Arg553*)
Genomic name (hg19) chr7:g.117227865C>T    UCSC    gnomAD
#Exon/intron exon 12
Legacy Name R553X
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
Patients reported in CFTR-NGS, carrying this variant also carry:
  • c.2620-3342A>G - p.(?) : 100.00%
    • WT sequence TGGAATCACACTGAGTGGAGGTCAA C GAGCAAGAATTTCTTTAGCAAGGTG
    Mutant sequence TGGAATCACACTGAGTGGAGGTCAA T GAGCAAGAATTTCTTTAGCAAGGTG


    Additional information:
    MAF (GnomAD) 1.26e-04
    Splicing prediction (SpliceAI) AG: 0.00 (22)
    AL: 0.00 (-5)
    DG: 0.00 (-6)
    DL: 0.21 (22)




    External sources:
    dbSNP
    no rs
    Not found

    Variant validation:
    Sanger
    (present/not present/not verified)
    		 Minigene
    (effect/no effect/not performed)
    presentnot performed



    81 individuals carrying this variant are reported in CFTR-France


    5 individuals (out of 136) carrying this variant are reported in CFTR-NGS catalogue:

    TOTAL NUMBER OF INDIVIDUALS 5
    Asymptomatic 1
    CFTR-RD1
    • CFTR-RD  1
    Pending (NBS) 2
    Suspicion of CF 1



    Details of NGS patients:
    ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
    vd63AsymptomaticMontpellier230414_varilhheterozygous PASS 5645 654
    vd64CFTR-RDMontpellier230414_varilhheterozygous PASS 3135 323
    2Pending (NBS)Montpellier150517_varilhheterozygous PASS 4541 467
    7Pending (NBS)Montpellier150517_varilhheterozygous PASS 3466 278
    cad190203Suspicion of CFMontpellier150419_Altieriheterozygous PASS 1734 196





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