Table 3 Classification of genetic variants according to their MAF and their ACMG pathogenicity criteria.

From: Protein and functional isoform levels and genetic variants of the BAFF and APRIL pathway components in systemic lupus erythematosus

Gene

Frequencies of variants in 100 genome all populations database

MAF > 0.05

0 < MAF < 0.05

MAF = 0

B

LB

VUS

LP

P

B

LB

VUS

LP

P

B

LB

VUS

LP

P

TNFSF13B

6 variants

1

     

2

1

   

1

1

  

TNFSF13

12 variants

3

    

2

4

    

2

1

  

TNFRSF13B

21 variants

5

1

1

  

3

1

1

2

1

1

 

4

 

1

TNFRSF13C

9 variants

1

 

2

  

3

1

    

1

1

  

TNFRSF17

4 variants

2

    

1

1

        

Total

52 variants

12

1

3

  

9

9

2

2

1

1

4

7

 

1

  1. ACMG American College of Medical Genetics and Genomics, MAF minor allele frequency, B benign, LB likely benign, VUS variant of uncertain significance, LP likely pathogenic, P pathogenic.
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