Unclassified variants in BRCA2 in the Dutch population


This table was generated from our database on 18-03-2002. We will continue to add references to this database and post updates on this site regularly.

Gene

Exon

Nt

Base Change

Codon

AA Change

Designation

In BIC?

Times found

BRCA2

3

353

A to G

42

Tyr to Cys

Y42C

Ja

2

BRCA2

6

332

-12 A to G

 

 

IVS5-12A>G (BRCA2)

Nee

1

BRCA2

9

667

-17 G to T

 

 

IVS8 -17G>T

Nee

1

BRCA2

10

1059

T to G

277

Asn to Lys

N277K

Ja

1

BRCA2

10

1379

C to T

384

Ser to Phe

S384F

Ja

1

BRCA2

10

1570

C to T

448

Arg to Cys

R448C

Ja

1

BRCA2

10

1623

A to C

465

Val to Val

1623A>C (V465V)

Ja

1

BRCA2

10

1742

T to C

505

Ile to Thr

I505T

Ja

1

BRCA2

10

2020

A to G

598

Thr to Ala

T598A

Ja

3

BRCA2

10

2117

C to T

630

Thr to Ile

T630I

Ja

1

BRCA2

10

2137

+22 del T

 

 

IVS10+22delT

Nee

6

BRCA2

11

2166

C to T

646

Ser to Ser

2166C/T (S646S)

Ja

1

BRCA2

11

2908

G to A

894

Val to Ile

V894I

Ja

2

BRCA2

11

3014

T to C

929

Leu to Ser

L929S

Ja

1

BRCA2

11

3031

G to A

935

Asp to Asn

D935N

Ja

1

BRCA2

11

4296

G to A

1356

Leu to Leu

4296G>A (L1356L)

Ja

1

BRCA2

11

4437

T to A

1403

Thr to Thr

4437T/A (T1403T)

Nee

1

BRCA2

11

4486

G to A

1420

Asp to Tyr

D1420Y (G>A)

Nee

1

BRCA2

11

4798

T to G

1523

Phe to Val

F1523V

Nee

1

BRCA2

11

4813

G to A

1529

Gly to Arg

G1529R

Ja

1

BRCA2

11

5780

T to G

1851

Ile to Ser

I1851S

Nee

1

BRCA2

11

6328

C to T

2034

Arg to Cys

R2034C

Ja

1

BRCA2

13

7172

T to G

2315

Ile to Arg

I2315R

Nee

1

BRCA2

14

7238

C to T

2337

Thr to Ile

T2337I

Nee

1

BRCA2

14

7245

G to C

2339

Lys to Asn

K2339N

Ja

1

BRCA2

14

7423

A to C

2399

Thr to Pro

7423A/C (T2399P)

Nee

1

BRCA2

14

7547

A to G

2440

His to Arg

H2440R

Ja

1

BRCA2

15

7845

+18 T to G

 

 

IVS15+18T>G

Nee

1

BRCA2

17

8034

-15 T to C

 

 

IVS16-15T>C

Nee

2

BRCA2

18

8206

T to G

2660

Tyr to Asp

Y2660D

Ja

2

BRCA2

18

8360

G to A

2712

Gly to Ala

D2712K

Nee

1

BRCA2

18

8377

G to T

2717

Ala to Ser

A2717S

Ja

4

BRCA2

18

8410

G to A

2728

Val to Ile

V2728I

Ja

4

BRCA2

18

8471

G to A

2748

Gly to Asp

G2748D

Ja

1

BRCA2

18

8518

G to A

2763

Ala to Thr

A2763T

Nee

2

BRCA2

20

8795

A to C

2856

Glu to Ala

E2856A

Ja

2

BRCA2

24

9382

C to T

3052

Arg to Trp

R3052W

Nee

2

BRCA2

24

9446

A to G

3073

Asp to Gly

D3073G

Nee

1

BRCA2

25

9485

-16 T to C

 

 

IVS24-16T>C

Ja

6

BRCA2

27

10462

A to G

3412

Ile to Val

I3412V

Ja

1