catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117201028G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.1584+1319G>A
Protein name NP_000483.3:p.(?)
Genomic name (hg19) chr7:g.117201028G>A    UCSC    gnomAD
#Exon/intron intron 11
Type in CFTR-NGS catalogue -
Class in CFTR-France not reported
Patients reported in CFTR-NGS, carrying this variant also carry:
  • c.274-5884C>T - p.(?) : 100.00%
  • c.3485G>T - p.(Arg1162Leu) : 100.00%
    • WT sequence GGTGCCTTACAGACTTTTTTTTTGC G TTAAGTATGTGTTTTCCCATAGGAA
    Mutant sequence GGTGCCTTACAGACTTTTTTTTTGC A TTAAGTATGTGTTTTCCCATAGGAA


    Additional information:
    MAF (GnomAD) 3.43e-04
    Splicing prediction (SpliceAI) AG: 0.00 (23)
    AL: 0.00 (-1)
    DG: 0.00 (-25)
    DL: 0.00 (-1)




    External sources:

    Not found
    Not found    		dbSNP
    rs758543641
    Not found

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



    No patient found 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 2945 311
    cad190202Pending (NBS)Montpellier150419_Altieriheterozygous PASS 1400 155





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