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Table 5 Unclassified BRCA1/2 variants in Bulgarian BC patients

From: Spectrum and frequencies of BRCA1/2 mutations in Bulgarian high risk breast cancer patients

Exon

HGVS nomenclature

BIC nomenclature

Protein nomenclature

Functional domain

Mutation type

MAF in Bulgarian patients

Analysed patients (n)

MAF in healthy controls

Analysed healthy controls (n)

MAF in Europeans

BRCA1

 

5

c.139 T > G

C47G

p.Cys47Gly

ring finger

missense

0.002

200

0.000

96

NA

8

c.536A > G

Y179C

p.Tyr179Cys

-

missense

0.002

194

0.000

96

0.001

11

c.736 T > G

L246V

p.Leu246Val

-

missense

0.002

200

-

-

0.002

11

c. 1067A > G

Q356R

p. Gln356Arg

-

missense

0.072

194

0.052

96

0.049

11

c.1456 T > C

F486L

p.Phe486Leu

-

missense

0.002

200

-

-

0.001

11

c.1648A > C

N550H

p.Asn550His

-

missense

0.002

200

0.00

96

0.001

11

c.2077G > A

D693H

p.Asp693Asn

-

missense

0.065

192

0.083

96

0.097

11

c.2612C > T

P871L

p.Pro871Leu

-

missense

0.350

193

0.391

96

0.336

11

c.3113A > G

E1038G

p.Glu1038Gly

-

missense

0.335

195

0.349

96

0.358

11

c.3119G > A

S1040N

p.Ser1040Asn

-

missense

0.023

195

0.026

96

0.580

11

c.3548A > G

K1183R

p.Lys1183Arg

-

missense

0.339

193

0.302

96

0.332

11

c.3999 T > C

V1333A

p. Val1333Ala

AD1

missense

0.002

200

0.00

96

-

16

c.4837A > G

S1613C

p.Ser1613Gly

AD2

missense

0.323

193

0.318

96

0.314

16

c.4956G > A

M1652I

p.Met1652Ile

BRCT1/AD2

missense

0.036

193

0.016

96

0.005

9

c.591C > T

C197C

p.Cys197=

-

cds-synon

0.007

193

0.00

96

0.001

11

c.2082C > T

S694S

p.Ser694=

-

cds-synon

0.323

192

0.318

96

0.280

11

c.2311 T > C

L771L

p.Leu771=

-

cds-synon

0.233

191

-

-

0.332

13

c.4308 T > C

S1436S

p.Ser1436=

AD1

cds-synon

0.337

194

-

-

0.332

7

c.441 + 36_441 + 38delCTT

IVS7 + 36delCTT

-

-

IVS

0.194

195

0.354

96

NA

8

c.442-34C > T

IVS7-34 C > T

-

-

IVS

0.230

194

0.224

96

0.257

9

c.548-58delT

IVS8-58delT

-

-

IVS

0.196

193

0.385

96

0.331

15

c.4485-63C > G

IVS14-63C > G

-

-

IVS

0.330

197

-

-

0.321

18

c.5075-53C > T

IVS17-53 C > T

-

-

IVS

0.010

194

-

-

0.034

20

c.5277 + 56delGTA

IVS20 + 56insGTA

-

-

IVS

0.002

200

0.00

96

-

BRCA2

 

10

c.865A > C

N289H

p.Asn289His

-

missense

0.050

185

-

-

0.031

10

c.978C > A

S326R

p.Ser326Arg

-

missense

0.010

185

-

-

0.001

10

c.1114A > C

H372N

p.Asn372His

-

missense

0.283

185

-

-

0.300

11

c.2971A > G

N991D

p.Asn991Asp

-

missense

0.050

185

-

-

0.031

11

c.3515C > T

S1172L

p.Ser1172Leu

-

missense

0.002

185

0.00

96

0.001

11

c.5744C > T

T1915M

p.Thr1915Met

-

missense

0.017

200

0.016

96

0.032

11

c.6100C > T

R2034C

p.Arg2034Cys

-

missense

0.002

200

-

-

0.018

11

c.6322C > T

R2108C

p.Arg2108Cys

-

missense

0.002

200

-

-

0.001

15

c.7469 T > C

I2490T

p.Ile2490Thr

Helical Domain

missense

0.002

185

-

-

0.000

23

c.9104A > C

Y3035S

p.Tyr3035Cys

OB2

missense

0.005

200

0.005

96

NA

11

c.4146_4148delAGA

E1382del

delinsAsp

-

Cds_indel

0.002

200

-

-

NA

10

c.1365A > G

S455S

p.Ser455=

-

Cds-synon

0.030

185

-

-

0.031

11

c.2229 T > C

H743H

p.His743=

-

Cds-synon

0.035

184

-

-

0.031

11

c.3396A > C

K1132K

p.Lys1132=

-

Cds-synon

0.285

182

-

-

0.250

11

c.3807 T > C

V1269V

p.Val1269=

-

Cds-synon

0.189

185

-

-

0.226

14

c.7242A > G

S2414S

p.Ser2414=

-

Cds-synon

0.184

184

-

-

0.190

2

c.-26G > A

203G > A

-

-

UTR-5

0.247

190

-

-

0.199

27

c.*105A > C

IVS27 + 104A > C

-

-

UTR-3

0.183

185

-

-

0.274

4

c.425 + 67A > C

IVS4 + 67A > C

-

-

IVS

0.050

184

-

-

0.031

4

c.425 + 147G > T

IVS4 + 147G > T

-

-

IVS

0.040

184

-

-

0.062

5_6

c.426-89 T > C

IVS4-89 T > C

-

-

IVS

0.040

184

-

-

0.031

8

c.681 + 56C > T

IVS8 + 56C > T

-

-

IVS

0.060

185

-

-

0.133

11

c.6841 + 80_6841 + 83

IVS11 + 80

-

-

IVS

0.289

185

-

-

0.294

delTTAA

delTTAA

13

c.7007 + 134_7007 + 135 insTTATAAAAT

IVS13 + 164 delTTATAAAAT

-

-

IVS

0.032

186

-

-

0.043

15

c.7617 + 28C > A

IVS15 + 28 C > A

-

-

IVS

0.002

200

-

-

-

17

c.7806-14 T > C

IVS16-14 T > C

-

-

IVS

0.320

187

0.469

96

0.465