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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