catalog




CFTR-NGS variants catalogue


Variant hg19:chr7:117230411G/T


CFTR-NGS Variant details:
Name NM_000492.4:c.1684G>A
Protein name NP_000483.3:p.(Val562Ile)
Genomic name (hg19) chr7:g.117230411G>A    UCSC    gnomAD
#Exon/intron exon 13
Legacy Name V562I
Type in CFTR-NGS catalogue -
Class in CFTR-France VUS
Subclass VUS1
WT sequence TAATTTCCATTTTCTTTTTAGAGCA G TATACAAAGATGCTGATTTGTATTT
Mutant sequence TAATTTCCATTTTCTTTTTAGAGCA A TATACAAAGATGCTGATTTGTATTT


Additional information:
MAF (GnomAD) -
Splicing prediction (SpliceAI) AG: 0.03 (-2)
AL: 0.42 (1)
DG: 0.00 (31)
DL: 0.00 (1)

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 0.8168 0.13 0.008
VUS1 VUS1 VUS2 VUS1
Color code:   non disease-causing <   VUS1 <   VUS2 <   VUS3 <   VUS4 <   VUS5 <   disease-causing



42 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
CFTR-RD1
  • CFTR-RD  1



Details of NGS patients:
ID Phenotype Laboratory Experiment Variant status Variant filter Quality score Depth of coverage
3199CFTR-RDMontpellier40216_varilhheterozygous PASS 3962 346





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