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Table 2 Information regarding the rare variants identified in the TOF patients

From: Multiple gene variations contributed to congenital heart disease via GATA family transcriptional regulation

Gene Nucleotide change Amino acid change Patient ID Diagnosis Scores of SIFT/PolyPhen/MutationTaster SIFT/PolyPhen/MutationTaster ExAC/1 KG (frequency) Patients (n = 106) Internal database ClinVar
JAG1 c. 1511A>G N504S B151 TOF/PFO 0.04/0.07/0.1 D/B/D 0.00004/0 1 2 Likely pathogenic
  c. 3038A>T H1013L B393* TOF 0.02/0.601/1 D/P/D 0.0001/0 1 0  
  c. 2906T>C M969T B294* TOF 0.042/0.001/1 T/B/D 0/0 1 0  
  c. 806C>G P269R B431 TOF/ASD 0/1/1 D/D/D 0/0 1 0  
GATA4 c. 1220C>A P407Q B445,B548* TOF/PFO 0.05/0.145/1 D/B/D 0.0006/0.0012 2 1 Pathogenic
  c. 1138G>A V380 M B445,B548* TOF/PFO 0.49/0.002/0.002 T/B/N 0.0063/0.0156 2 2  
GATA5 c. 943T>A S315T B314 TOF/PFO 0.69/0.006/0 T/B/N 0/0 1 0  
  c. 274G>T A92S B294* TOF 0.83/0.097/0.001 T/B/N 0/0 1 0  
GATA6 c. 331G>A D111 N B413 TOF 0.19/0.069/1 T/B/D 0/0 1 0  
  c. 972C>G H324Q B393* TOF 0.3/0.846/0.026 T/P/N 0/0 1 0  
ZFPM2 c. 3442G>A E1148 K B430 TOF/PFO 0/0.985/1 D/D/D 0/0 1 0  
  c. 3014A>G E1005G B546 TOF 0.2/0.073/1 T/B/D 0.0001/0.0002 1 0  
TBX2 c. 2139dupG Frameshift B326 TOF/AVSD ././. ././. 0/0 1 0  
TBX5 c. 409G>T V137L A1114 TOF/PDA/PFO 0.02/0.772/1 D/P/D 0/0 1 0  
CITED2 c.-1A>T Splice B303 TOF/PAA ././1 ././D 0/0 1 0  
  1. * More than one rare variant was found in one case
  2. TOF Tetralogy of Fallot, ASD Atrial septum defect, ACSD Atrioventricular septum defect, LSVC Left superior vena cava, PDA Patent ductus arteriosus, PFO Patent foramen ovale, PAA pulmonary artery absent, SIFT, “D” meaning deleterious, score less than 0.05, “T” meaning tolerated, score greater than or equal to 0.05; PolyPhen2, “D” meaning likely damaging, 0.957 ≤ score ≤ 1, “P” meaning likely damaging, 0.453 ≤ score ≤ 0.956, “B” meaning benign, 0 ≤ score ≤ 0.452; MutationTaster, “A” represents as disease causing automatic meaning known deleterious reported in HGMD/ClinVar/dbSNP, “D” represents as disease causing meaning likely deleterious, “N” represents polymorphism or likely harmless, “P” represents polymorphism automatic meaning known harmless. ExAC, Exome Aggregation Consortium; 1 KG, 1000 genome; Internal database: n = 3215, whole- exome sequencing data from the molecular laboratory of the Children Hospital of Fudan University; “0” in frequency means didn’t find in the database