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Table 3 BRCA2 variants

From: BRCA1 and BRCA2 mutation spectrum – an update on mutation distribution in a large cancer genetics clinic in Norway

No of families

HGVS

 

Type of mutation

No.of ind.

No. of fam.

Average no of carrier/ fam

Percentage of carriers/families

Previous reports

>30

c.5217_5223del

p.Tyr1739*

stop

230

61

3,8

21%

NF

       

230/1092

19%

61/312

 

10–30

c.4821_4823delTGAinsC

p.Glu1608Aspfs*6

fs

126

25

3,9

34%

NF

 

c.2808_2811del

p.Ala938Profs*21

fs

89

26

 

368/1092

Norwegian founder

 

c.8331 + 2 T > C

p.?

splice variant

71

29

  

Danish founder

 

c.3847_3848del

p.Val1283Lysfs*2

fs

82

14

 

30%

94/312

Norwegian, Iranian founder

3–9

dup exon 20/ c.(8487 + 1_8488–1)_(8632 + 1_8633–1)dup

p.?

rearr

34

9

3,2

23%

NF

 

c.9118-2A > G

p.?

splice variant

44

8

 

257/1092

Finnish founder, recurrent Polish

 

c.5723_5722del

p.Leu1908Argfs*2

fs

23

8

  

NF

 

c.2047_2050del

p.Ser683Argfs*46

fs

28

6

 

26%

80/312

NPR

 

c.8229_8243del

p.Arg2744_Gly2748del

in frame del

18

5

  

NF

 

c.5946del

p.Ser1982Argfs*22

fs

11

5

  

Ashkenazi, Hungarian

 

c.771_775del

p.Asn257Lysfs*17

fs

6

5

  

Finnish, Icelandic

 

c.1905_1909del

Asp635Glufs*15

fs

22

4

  

NF

 

c.5576_5573del

p.Ile1859Lysfs*5

fs

11

4

  

NF

 

c.6059_6062del

p.Glu2020Valfs*19

fs

9

4

  

NF

 

c.9117G > A

p.Val2985Glyfs*4

splice variant

5

4

  

NF

 

c.171C > G

p.Tyr57Ter*

stop

15

3

  

NF

 

c.8177A > G

p.Tyr2726Cys

missense

9

3

  

NF

 

c.2830A > T

p.Lys944Ter*

stop

8

3

  

NF

 

c.3847_3848del

p.Val1283Lysfs*2

fs

8

3

  

NF

 

c.7069_7070del

p.Leu2357Valfs*2

fs

3

3

  

NF

 

c.7480C > T

p.Arg2494*

stop

3

3

  

Finnish founder

1–2

del exon 3

p.?

rearr

8

2

3,1

22%

NF

 

c.3G > A

p.Met1?

start loss

6

2

 

237/1092

NF

 

c.5157_5161del

p.Asn1719Lysfs*6

fs

2

2

 

25%

NF

 

c.6373dup

p.Thr2125Asnfs*4

fs

5

2

 

77/312

NF

 

c.6486_6489del

p.Lys2162Asnfs*5

fs

2

2

  

Danish founder

 

c.7558C > T

p.Arg2520*

stop

14

2

  

NF

 

c.7617 + 1G > A

p.?

splice

2

2

  

Danish founder

 

c.8130del

p.Ser2710Argfs*23

fs

9

2

  

NF

 

c.8323dup

p.Met2775Asnfs*7

fs

10

2

  

NF

 

c.631 + 4A > G

p.?

splice

11

2

  

NF

 

c.9154C > T

p.Arg3052Trp

missense

9

2

  

NF

 

c.9699_9702del

p.Cys3233Trpfs*15

fs

12

2

  

NF

 

del exon 19–21/c.(8331 + 1_8332–1)_(8754 + 1_8755–1)del

p.?

rearr

1

1

  

NPR

 

del exon 20/c.(8487 + 1_8488–1)_(8632 + 1_8633–1)del

p.?

rearr

1

1

  

NF

 

c.1296_1297del

p.Asn433Glnfs*18

fs

1

1

  

NF

 

c.1429del

p.His477Ilefs*8

fs

10

1

  

NPR

 

c.1456C > T

p.Gln486*

stop

5

1

  

NF

 

c.1642C > T

p.Gln548*

stop

3

1

  

NF

 

c.1658 T > G

p.Leu553*

stop

4

1

  

NF

 

c.1945C > T

p.Gln649*

stop

4

1

  

NF

 

c.2636_2637del

p.Ser879*

stop

2

1

  

NF

 

c.3158 T > G

p.Leu1053*

stop

1

1

  

NF

 

c.3307_3308dup

p-Leu1103Phefs*2

fs

1

1

  

NPR

 

c.3545_3546del

p.Phe1182*

stop

1

1

  

NF

 

c.3596_3599del

p.Asp1199Valfs*9

fs

8

1

  

NF

 

c.3720_3721del

p.Phe1241*

stop

2

1

  

NPR

 

c.3751dup

p.Thr1251Asnfs*14

fs

2

1

  

NF

 

c.171del

p.Tyr57*

stop

4

1

  

NPR

 

c.3860del

p.Asn1287Ilefs*6

fs

1

1

  

Austrian founder

 

c.196C > T

p.Gln66*

stop

2

1

  

NF

 

c.4095 T > A

p.Cys1365*

stop

3

1

  

NF

 

c.4258del

p.Asp1420Ilefs*28

fs

2

1

  

Swedish founder

 

c.4710del

p.GLu1571Argfs*8

fs

1

1

  

NF

 

c.4794_4797del

p.Asn1599Metfs*17

fs

1

1

  

NF

 

c.5073dup

p.Trp1692Metfs*3

fs

1

1

  

NF

 

c.316 + 1G > T

p.?

splice variant

5

1

  

NF

 

c.5577del

p.Val1862*

stop

1

1

  

NF

 

c.5645C > A

p.Ser1882*

stop

7

1

  

French founder

 

c.5682C > G

p.Tyr1894*

stop

4

1

  

NF

 

c.6034dup

p.Ser2012Phefs*6

fs

3

1

  

NPR

 

c.6084_6088del

p.Glu2029Tyrfs*18

fs

5

1

  

NPR

 

c.407del

p.Asn136 Ilefs*16

fs

1

1

  

NF

 

c.6611dup

p.Val2205Cysfs*20

fs

2

1

  

NF

 

c.6591_6592del

p.Glu2198Asnfs*4

fs

3

1

  

NF

 

c.469_470del

p.Lys157Valfs*25

fs

3

1

  

NF

 

c.7024C > T

p.Gln2342*

stop

1

1

  

NF

 

c.517-2A > G

p.?

splice variant

2

1

  

NF

 

c.7234del

p.Thr2412Leufs*57

fs

4

1

  

NF

 

c.7673_7674del

p.Glu2558Valfs*7

fs

3

1

  

NF

 

c.7680dup

p.Gln2561Serfs*5

fs

1

1

  

NF

 

c.7753G > A

p.Gly2585Arg

missense

1

1

  

NF

 

c.7829dupT

p.Asp2611Glyfs*7

fs

1

1

  

NF

 

c.7878G > C

p.Trp2626Cys

missense

3

1

  

NF

 

c.7913_7917del

p.Phe2638*

stop

1

1

  

Czech founder

 

c.8090_8105del

p.Ser2697Lysfs*31

fs

2

1

  

NPR

 

c.8396dup

p.Pro2800Thyfs*12

fs

9

1

  

NPR

 

c.658_659del

p.Val220Ilefs*4

fs

1

1

  

Lithuanian founder

 

c.8878C > T

p.Gln2960*

stop

1

1

  

Korean

 

c.614delG

p.Ser205Ilefs*6

fs

4

1

  

NPR

 

c.9127G > T

p.Glu3043*

stop

1

1

  

NF

 

c.9227del

p.Gly3076Aspfs*7

fs

2

1

  

NF

 

c.9253dup

p.Thr3085Asnfs*26

fs

10

1

  

NF

 

c.9382C > T

p.Arg3128*

stop

1

1

  

Jewish founder

 

c.9403del

p.Leu3135Phefs*28

fs

1

1

  

NF

 

c.9523G > T

p.Glu3175*

stop

3

1

  

NF

  1. *Founders are reported with indication of origin, NF not founder through search, NPR not previously reported
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Hereditary Cancer in Clinical Practice

ISSN: 1897-4287