Table 2: BRCA1/2 mutations from 100 breast cancer patients.

Sample ID

Gene

Exon/intron

HGVS ID, cDNA

Amino acid change

Allele frequency

Interpretation

Case#01

BRCA2

ex16

NM_000059.3:c.7672G > C

E2558Q

0.051

3-VUS

Case#02

BRCA1

BRCA2

ex11

ex10

NM_007294.3:c.2566T > C

NM_000059.3:c.1362A > G

Y856H

K454K

0.487

0.405

1-non-pathogenic

1-non-pathogenic

Case#03

BRCA1

ex11

NM_007294.3:c.2566T > C

Y856H

0.577

1-non-pathogenic

Case#05

BRCA1

ex11

ex9

NM_007294.3:c.2566T > C

NM_007294.3:c.571G > A

Y856H

V191I

0.503

0.514

1-non-pathogenic

1-non-pathogenic

Case#07

BRCA2

ex11

NM_000059.3:c.5785A > G

NM_000059.3:c.6148G > A

I1929V

V2050I

0.472

0.511

1-non-pathogenic

1-non-pathogenic

Case#10

BRCA2

ex18

NM_000059.3:c.8187G > T

K2729N

0.448

1-non-pathogenic

Case#16

BRCA2

ex11

NM_000059.3:c.4148_4149del

NM_007294.3:c.2566T > C

D1383 fs*19

Y856H

0.334

0.495

5-Pathogenic

1-non-pathogenic

Case#25

BRCA2

ex11

NM_000059.3:c.3473A > G

NM_000059.3:c.5590G > A

E1158G

D1864N

0.463

0.465

3-VUS

3-VUS

Case#26

BRCA1

ex16

NM_007294.3:c.4883T > C

M1628T

0.500

1-non-pathogenic

Case#28

BRCA1

ex11

NM_007294.3:c.3739G > A

V1247I

0.536

1-non-pathogenic

Case#31

BRCA2

ex11

NM_000059.3:c.3420T > C

S1140S

0.378

1-non-pathogenic

Case#33

BRCA2

ex11

NM_000059.3:c.6402_6406del

N2134fs*3

0.331

5-Pathogenic

Case#34

BRCA2

ex11

NM_000059.3:c.5345A > G

Q1782R

0.506

3-VUS

Case#36

BRCA2

ex25

NM_000059.3:c.9382C > T

R3128*

0.601

5-Pathogenic

Case#39

BRCA2

ex11

NM_000059.3:c.6598T > C

F2200L

0.488

3-VUS

Case#43

BRCA1

ex11

NM_007294.3:c.2566T > C

Y856H

0.737

1-non-pathogenic

Case#47

BRCA2

ex11

NM_000059.3:c.4151del

D1384fs*4

0.327

5-Pathogenic

Case#96

BRCA1

ex08

NM_007294.3:c.446A > C

E149A

0.491

3-VUS

Case#53

BRCA2

ex18

NM_000059.3:c.8187G > T

K2729N

0.401

1-non-pathogenic

Case#59

BRCA1

ex11

NM_007294.3:c.2566T > C

NM_000059.3:c.5199C > T

Y856H

S1733S

0.411

0.605

1-non-pathogenic

1-non-pathogenic

Case#61

BRCA1

ex16

NM_007294.3:c.4787C > T

S1596L

0.414

3-VUS

Case#62

BRCA2

ex10

ex11

NM_000059.3:c.1399A > T

NM_000059.3:c.6382A > G

K467*

K2128E

0.488

0.510

5-Pathogenic

2-likely-non-pathogenic

Case#65

BRCA2

ex18

NM_000059.3:c.8187G > T

K2729N

0.353

1-non-pathogenic

Case#67

BRCA2

ex20

NM_000059.3:c.8500A > G

T2834A

0.658

3-VUS

Case#70

BRCA2

ex11

ex10

NM_000059.3:c.2175dup

NM_000059.3:c.1568A > G

K726 fs*25

H523R

0.200

0.494

5-Pathogenic

3-VUS

Case#74

BRCA1

ex11

NM_007294.3:c.2566T > C

Y856H

0.265

1-non-pathogenic

Case#78

BRCA1

ex11

NM_007294.3:c.2566T > C

Y856H

0.494

1-non-pathogenic

Case#80

BRCA2

ex11

NM_000059.3:c.2806_2809del

NM_000059.3:c.5785A > G

D938 fs*21

I1929V

0.765

0.236

5-Pathogenic

1-non-pathogenic

Case#82

BRCA2

ex08

NM_000059.3:c.644_646del

E215del

0.558

3-VUS

Case#84

BRCA2

ex18

NM_000059.3:c.8187G > T

K2729N

0.485

1-non-pathogenic

Case#86

BRCA1

ex16-17

NM_007294.3:c.4676_5074del

E1559_T1691del

0.800

5-Pathogenic

Case#95

BRCA2

BRCA1

ex18

ex11

NM_000059.3:c.8329A > G

NM_007294.3:c.837T > C

K2777E

H279H

0.498

0.495

3-VUS

3-VUS

Case#98

BRCA2

ex10

NM_000059.3:c.1211A > G

N404S

0.436

3-VUS

Case#100

BRCA2

BRCA1

ex13

ex11

NM_000059.3:c.6952C > T

NM_007294.3:c.3739G > A

R2318*

V1247I

0.085

0.607

5-Pathogenic

1-non-pathogenic