Table 3 Number and position of BRCA1/2 variants and frequencies based on pathogenic variants

From: Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population

 

BRCA1

BRCA2

Unique variant No.

Total

P/LP

Trunc.

Total

P/LP

Trunc.

Exonic

333

34

4

607

51

14

Splicing

4

2

 

4

4

 

Intronic

7258

1

 

5575

0

 

Total

7711

37

4

6320

55

14

 

Average

P/LP

 

Average

P/LP

 

Allele count

108587.4

135

5

108536.7

156

18

 

BRCA1

BRCA2

 

ClinVar

+Trunc.

ClinVar

+Trunc.

Allele frequency

1.243 × 10−3

1.289 × 10−3

1.473 ×10−3

1.603 × 10−3

Carrier frequency

2.485 × 10−3

2.577 × 10−3

2.873 × 10−3

3.204 × 10−3

 

BRCA1 or BRCA2

  
 

ClinVar

+Trunc.

  

Carrier frequency

5.350 × 10−3

5.772 × 10−3

  
  1. P/LP pathogenic or likely pathogenic in ClinVar, Trunc. truncating variants that are not reported as P/LP in ClinVar, but classified as Pathogenic according to ENIGMA criteria. (Frequencies were calculated under the assumption that each variant is independent of each other because allele frequencies are very low and the possibility that one person simultaneously has more than two variants can be ignored.)
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