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Table 1 Identified germline variants in RAD51, XRCC3, and XRCC2 genes

From: RAD51, XRCC3, and XRCC2 mutation screening in Finnish breast cancer families

Gene

Genomic location a

HGVS b

Function

rs-number

AA c

Aa d

Aa e

MAF f

1000G-FIN MAF g

RAD51

15:40987528

c.-98G > C

5´UTR

rs1801320

154

27

1

0.080

0.113

RAD51

15:40987565

c.-61G > T

5´UTR

rs1801321

103

56

23

0.280

0.312

RAD51

15:40987568

c.-58C > G

5´UTR

 

181

1

0

0.003

 

RAD51

15:40987725

c.-3 + 102C > T

intronic

rs3092981

151

22

9

0.110

0.183

RAD51

15:40991153

c.87 + 110A > G

intronic

rs2304579

153

28

1

0.082

0.113

RAD51

15:40998303

c.226-72delA

intronic

rs55943660

156

26

0

0.071

0.108

RAD51

15:40998342

c.226-33 T > G

intronic

rs45457497

136

43

3

0.135

0.129

RAD51

15:41001187

c.344-36 T > G

intronic

rs45455000

153

26

3

0.088

0.108

RAD51

15:41020898

c.531-12C > T

intronic

 

181

1

0

0.003

 

XRCC3

14:104177282

c.55 + 88C > G

intronic

 

181

1

0

0.003

 

XRCC3

14:104174944

c.108G > A

p.(=)

 

181

1

0

0.003

 

XRCC3

14:104174824

c.193 + 34C > T

intronic

rs1799795

171

11

0

0.030

0.032

XRCC3

14:104173300

c.406 + 40C > T

intronic

rs374684710

177

5

0

0.014

 

XRCC3

14:104169435

c.561 + 75G > A

intronic

 

181

1

0

0.003

 

XRCC3

14:104165753

c.722C > T

p.(Thr241Met)

rs861539

91

68

23

0.313

0.317

XRCC3

14:104165647

c.774 + 54G > A

intronic

rs150986165

181

1

0

0.003

0.005

XRCC3

14:104165611

c.774 + 90G > T

intronic

 

181

1

0

0.003

 

XRCC3

14:104165465

c.821 + 5G > A

intronic

 

181

1

0

0.003

 

XRCC3

14:104165411

c.822-57C > T

intronic

rs17101777

181

1

0

0.003

 

XRCC3

14:104165107

c.*28C > T

3'UTR

 

181

1

0

0.003

 

XRCC3

14:104165100

c.*35A > G

3'UTR

 

181

1

0

0.003

 

XRCC2

7:152373252

c.-88G > C

downstream

rs3218384

203

117

22

0.235

0.204

XRCC2

7:152373233

c.-69 T > G

5'UTR

rs3218385

324

16

2

0.029

0.032

XRCC2

7:152357877

c.40-10C > T

intronic

rs3218472

333

9

0

0.013

0.011

XRCC2

7:152346007

c.563G > A

p.(Arg188His)

rs3218536

310

32

0

0.047

0.048

  1. aThe genomic location is denoted according to NCBI37/Hg19 genome build and the variant coding refers to transcripts ENST00000267868 in RAD51, ENST00000352127 in XRCC3, and ENST00000359321 in XRCC2; bvariant description according to HGVS nomenclature; number of ccommon homozygotes, dheterozygotes, and erare homozygotes; fminor allele frequency (MAF) observed in this study; gMAF in 1000Genomes Finnish population.
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