catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117149177G/A


CFTR-NGS Variant details:
Name NM_000492.4:c.254G>A
Protein name NP_000483.3:p.(Gly85Glu)
Genomic name (hg19) chr7:g.117149177G>A    UCSC    gnomAD
#Exon/intron exon 3
Legacy Name G85E
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass CF-causing
WT sequence TTTTTCTGGAGATTTATGTTCTATG G AATCTTTTTATATTTAGGGGTAAGG
Mutant sequence TTTTTCTGGAGATTTATGTTCTATG A AATCTTTTTATATTTAGGGGTAAGG


Additional information:
MAF (GnomAD) 5.59e-05
Splicing prediction (SpliceAI) AG: 0.00 (18)
AL: 0.00 (-14)
DG: 0.00 (-9)
DL: 0.12 (19)

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 0.2439 0.07 0.995
VUS1 VUS1 VUS4 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



38 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
P2BCFMontpellier230414_varilhheterozygous PASS 3586 301





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