catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117254753G/C


CFTR-NGS Variant details:
Name NM_000492.4:c.3454G>C
Protein name NP_000483.3:p.(Asp1152His)
Genomic name (hg19) chr7:g.117254753G>C    UCSC    gnomAD
#Exon/intron exon 21
Legacy Name D1152H
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
Subclass varying clinical consequence
WT sequence GCAGTGGGCTGTAAACTCCAGCATA G ATGTGGATAGCTTGGTAAGTCTTAT
Mutant sequence GCAGTGGGCTGTAAACTCCAGCATA C ATGTGGATAGCTTGGTAAGTCTTAT


Additional information:
MAF (GnomAD) 3.21e-04
Splicing prediction (SpliceAI) AG: 0.00 (-47)
AL: 0.00 (1)
DG: 0.00 (14)
DL: 0.00 (2)

External sources:
dbSNP
rs75541969

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C0 0.3384 0.04 0.574
VUS1 VUS1 VUS5 VUS4
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



116 individuals carrying this variant are reported in CFTR-France


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

TOTAL NUMBER OF INDIVIDUALS 3
CF 2
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
21CFMontpellier150517_varilhheterozygous PASS 3316 306
22CFMontpellier150517_varilhheterozygous PASS 3832 335
csg183926Suspicion of CFMontpellier151220_Altieriheterozygous PASS 1080 152





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