catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117171029G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.350G>A
Protein name NP_000483.3:p.(Arg117His)
Genomic name (hg19) chr7:g.117171029G>A    UCSC    gnomAD
#Exon/intron exon 4
Legacy Name R117H
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.1393-1489_1393-1488delTA - p.(?) : 100.00%
  • c.54-10943G>A - p.(?) : 100.00%
    • WT sequence TATGACCCGGATAACAAGGAGGAAC G CTCTATCGCGATTTATCTAGGCATA
    Mutant sequence TATGACCCGGATAACAAGGAGGAAC A CTCTATCGCGATTTATCTAGGCATA


    Additional information:
    MAF (GnomAD) 1.59e-03
    Splicing prediction (SpliceAI) AG: 0.00 (21)
    AL: 0.00 (-7)
    DG: 0.00 (-8)
    DL: 0.05 (46)

    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 0.828 0.04 1
    VUS1 VUS1 VUS5 VUS5
    Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



    212 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
    CF 1
    CFTR-RD1
    • CFTR-RD  1
    Pending (NBS) 1
    Suspicion of CF 2



    Details of NGS patients:
    ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
    9282CFMontpellier160218_varilhheterozygous PASS 2369 220
    cad190199CFTR-RDMontpellier150419_Altieriheterozygous PASS 3494 278
    cad190205Pending (NBS)Montpellier150419_Altieriheterozygous PASS 4232 319
    cad200209Suspicion of CFMontpellier151220_Altieriheterozygous PASS 3399 269
    cad200210Suspicion of CFMontpellier151220_Altieriheterozygous PASS 3208 259





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