Unclassified variants in BRCA1 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

BRCA1

2

101

-22 A to G

 

 

IVS1-22A>G

Nee

1

BRCA1

2

172

T to C

18

Met to Thr

M18T

Ja

1

BRCA1

2

194

C to T

25

Pro to Pro

194C>T (P25P)

Nee

1

BRCA1

2

199

+49 C to G

 

 

IVS2+49C>G

Nee

1

BRCA1

3

200

-14 C to T

 

 

IVS2-14C>T

Ja

1

BRCA1

7

433

A to G

105

Tyr to Cys

Y105C

Ja

1

BRCA1

8

613

T to C

165

Leu to Pro

L165P

Nee

1

BRCA1

10

760

A to G

214

Asp to Gly

D214G

Ja

1

BRCA1

11

855

T to G

246

Leu to Val

L246V

Ja

2

BRCA1

11

1184

G to A

355

Lys to Lys

1184G>A (K355K)

Ja

1

BRCA1

11

1606

G to A

496

Arg to His

R496H

Ja

6

BRCA1

11

2640

C to T

841

Arg to Trp

R841W

Ja

1

BRCA1

11

3238

G to A

1040

Ser to Asn

3238G/A (S1040N)

Ja

2

BRCA1

11

3919

T to C

1267

Leu to Ser

L1267S

Nee

1

BRCA1

11

4010

del TTC

1297

del Ser

S1297del

Ja

1

BRCA1

11

4158

A to G

1347

Arg to Gly

4158A/G (R1347G)

Ja

8

BRCA1

13

4364

A to G

1415

Glu to Glu

4364A>G (Q1415Q)

Ja

1

BRCA1

14

4477

-21 T to C

 

 

IVS13-21T>C

Nee

1

BRCA1

16

4931

A to G

1604

Gln to Gln

4931A>G (Q1604Q)

Ja

2

BRCA1

16

5075

G to A

1652

Met to Ile

M1652I

Ja

7

BRCA1

16

5083

C to T

1655

Ser to Phe

S1655F

Ja

1

BRCA1

17

5106

-20 A to G

 

 

IVS16-20A>G

Ja

1

BRCA1

17

5106

-3 C to G

 

 

IVS16-3C>G

Nee

1

BRCA1

17

5176

A to G

1686

His to Arg

H1686R

Nee

1

BRCA1

17

5193

+3 A to G

 

-

IVS17+3A>G

Ja

1

BRCA1

18

5214

C to T

1699

Arg to Trp

R1699W

Ja

2

BRCA1

18

5215

G to A

1699

Arg to Gln

R1699Q

Ja

1

BRCA1

18

5242

C to A

1708

Ala to Glu

A1708E

Ja

1

BRCA1

18

5272

+10 A to G

 

 

IVS18+10A>G

Nee

1

BRCA1

18

5272

+18 G to A

 

 

IVS18+18G>A

Nee

1

BRCA1

18

5273

+5 G to C

 

 

IVS18+5G>C

Nee

1

BRCA1

19

5273

- 6 C to A

 

 

IVS18-6C>A

Nee

1

BRCA1

19

5277

A to G

1720

Thr to Ala

T1720A

Ja

2

BRCA1

20

5272

-23 A to C

 

 

IVS19-23A>C

Nee

1

BRCA1

20

5335

A to G

1739

Asp to Gly

D1739G

Ja

1

BRCA1

20

5335

A to T

1739

Asp to Val

D1739V

Nee

1

BRCA1

20

5396

+6 G to A

 

 

IVS20+6G>A

Nee

1

BRCA1

20

5396

+77 G to A

 

 

IVS20+77G>A

Ja

1

BRCA1

20

5397

A to G

1827

Ile to Val

I1827V (BRCA1)

Nee

1

BRCA1

21

5397

-14 C to G

 

 

IVS20 -14C>G

Nee

1

BRCA1

21

5451

+13 G to T

 

 

IVS21+13G>T

Nee

1

BRCA1

22

5501

G to C

1794

Glu to Asp

E1794D

Nee

1

BRCA1

22

5506

C to T

1796

Ser to Leu

S1796L

Nee

1

BRCA1

23

5586

+21 ins T

 

 

IVS23+21insT

Nee

1