catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117199648T/G


CFTR-NGS Variant details:
Name NM_000492.4:c.1523T>G
Protein name NP_000483.3:p.(Phe508Cys)
Genomic name (hg19) chr7:g.117199648T>G    UCSC    gnomAD
#Exon/intron exon 11
Legacy Name F508C
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CFTR-RD-causing
WT sequence GGCACCATTAAAGAAAATATCATCT T TGGTGTTTCCTATGATGAATATAGA
Mutant sequence GGCACCATTAAAGAAAATATCATCT G TGGTGTTTCCTATGATGAATATAGA


Additional information:
MAF (GnomAD) 8.79e-04
Splicing prediction (SpliceAI) AG: 0.03 (-43)
AL: 0.01 (25)
DG: 0.00 (-44)
DL: 0.00 (-43)

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
C55 0.01304 0.01 1
VUS5 VUS4 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



44 individuals carrying this variant are reported in CFTR-France


1 individual (out of 136) carrying this variant is reported in CFTR-NGS catalogue:

TOTAL NUMBER OF INDIVIDUALS 1
CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
m2369CFMontpellier230414_varilhheterozygous PASS 5903 497





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