catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117267592G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.3485G>T
Protein name NP_000483.3:p.(Arg1162Leu)
Genomic name (hg19) chr7:g.117267592G>T    UCSC    gnomAD
#Exon/intron exon 22
Legacy Name 3617G/T
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CFTR-RD-causing
Patients reported in CFTR-NGS, carrying this variant also carry:
  • c.274-5884C>T - p.(?) : 100.00%
  • c.1584+1319G>A - p.(?) : 100.00%
    • WT sequence TTATTTCAGATGCGATCTGTGAGCC G AGTCTTTAAGTTCATTGACATGCCA
    Mutant sequence TTATTTCAGATGCGATCTGTGAGCC T AGTCTTTAAGTTCATTGACATGCCA


    Additional information:
    MAF (GnomAD) 6.63e-04
    Splicing prediction (SpliceAI) AG: 0.00 (30)
    AL: 0.01 (-16)
    DG: 0.00 (30)
    DL: 0.11 (32)

    External sources:
    dbSNP
    no rs

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


    Pathogenicity predictions:
    AGVGD MAPP SIFT PPH2
    C0 0.05801 0.14 0.978
    VUS1 VUS2 VUS2 VUS5
    Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



    13 individuals carrying this variant are reported in CFTR-France


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

    TOTAL NUMBER OF INDIVIDUALS 2
    CFTR-RD1
    • CFTR-RD  1
    Pending (NBS) 1



    Details of NGS patients:
    ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
    cad190200CFTR-RDMontpellier150419_Altieriheterozygous PASS 2317 290
    cad190202Pending (NBS)Montpellier150419_Altieriheterozygous PASS 1920 180





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