catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117149143C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.220C>T
Protein name NP_000483.3:p.(Arg74Trp)
Genomic name (hg19) chr7:g.117149143C>T    UCSC    gnomAD
#Exon/intron exon 3
Legacy Name R74W
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CFTR-RD-causing
WT sequence AAATCCTAAACTCATTAATGCCCTT C GGCGATGTTTTTTCTGGAGATTTAT
Mutant sequence AAATCCTAAACTCATTAATGCCCTT T GGCGATGTTTTTTCTGGAGATTTAT


Additional information:
MAF (GnomAD) 4.33e-03
Splicing prediction (SpliceAI) AG: 0.00 (42)
AL: 0.00 (-43)
DG: 0.00 (6)
DL: 0.00 (50)

External sources:
dbSNP
rs115545701

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.00184 0.02 0.975
VUS1 VUS5 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



75 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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
6959CFTR-RDMontpellier40216_varilhheterozygous PASS 1949 154
P4CrSuspicion of CFMontpellier230414_varilhheterozygous PASS 5285 403





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