catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117230472C/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1745C>T
Protein name NP_000483.3:p.(Thr582Ile)
Genomic name (hg19) chr7:g.117230472C>T    UCSC    gnomAD
#Exon/intron exon 13
Legacy Name T582I
Type in CFTR-NGS catalogue -
Class in CFTR-France disease-causing
WT sequence CCTTTTGGATACCTAGATGTTTTAA C AGAAAAAGAAATATTTGAAAGGTAT
Mutant sequence CCTTTTGGATACCTAGATGTTTTAA T AGAAAAAGAAATATTTGAAAGGTAT


Additional information:
MAF (GnomAD) 3.49e-05
Splicing prediction (SpliceAI) AG: 0.00 (21)
AL: 0.03 (-9)
DG: 0.00 (-9)
DL: 0.27 (21)

External sources:

Not found		dbSNP
no rs

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


Pathogenicity predictions:
AGVGD MAPP SIFT PPH2
C15 1e-05 0.01 1
VUS1 VUS5 VUS5 VUS5
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



4 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
Suspicion of CF 1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
8Suspicion of CFMontpellier150517_varilhheterozygous PASS 3848 370





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