catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117250575G/C


CFTR-NGS Variant details:
Name NM_000492.4:c.2991G>C
Protein name NP_000483.3:p.(Leu997Phe)
Genomic name (hg19) chr7:g.117250575G>C    UCSC    gnomAD
#Exon/intron exon 19
Legacy Name L997F
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CFTR-RD-causing
WT sequence ACATGTTTTCTTTGATCTTACAGTT G TTATTAATTGTGATTGGAGCTATAG
Mutant sequence ACATGTTTTCTTTGATCTTACAGTT C TTATTAATTGTGATTGGAGCTATAG


Additional information:
MAF (GnomAD) 2.07e-03
Splicing prediction (SpliceAI) AG: 0.00 (26)
AL: 0.00 (-2)
DG: 0.00 (9)
DL: 0.00 (26)

External sources:
dbSNP
rs1800111

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.06646 0.06 0.999
VUS1 VUS2 VUS4 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



107 individuals carrying this variant are reported in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 4
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
5004CFTR-RDMontpellier40216_varilhheterozygous PASS 3912 359
3Pending (NBS)Montpellier150517_varilhheterozygous PASS 6210 451
csg182474Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2326 228
csg182478Suspicion of CFMontpellier151220_Altieriheterozygous PASS 2348 295





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