Table 1 BRCA variants identified in Portuguese

BRCA1

33

32

8

5

15

93

BRCA2

45

34

14

19

15

127

Total

78

66

22

24

30

220

B. Portuguese-specific BRCA PVs

cDNA

Protein

Variant type

ClinVar

Tested cases

Carrier

Carrier rate (%)

BRCA1

 c.3323_3326del

p.Ile1108Lysfs^a8

Deletion

P

112

2

1.79

 c.2037delinsCC^a

p.Lys679Asnfs^a4

Indel

P

1,595

24

1.50

 c.2309C>A

p.Ser770^a

SNV

P

94

1

1.06

 c.3477_3480del

p.Ile1159Metfs^a50

Deletion

P

94

1

1.06

 c.4165_4166del

p.Ser1389^a

Microsatellite

P

94

1

1.06

 c.211A>G

p.Arg71Gly

SNV

P

1,598

12

0.75

 c.116G>T

p.Cys39Phe

SNV

P/LP

135

1

0.74

 c.1016dup

p.Val340Glyfs^a6

Duplication

P

135

1

0.74

 c.1058G>A

p.Trp353^a

SNV

P

135

1

0.74

 c.4485-2A>C

p.?

SNV

LP

135

1

0.74

 c.3817C>T

p.Gln1273^a

SNV

P

1,360

9

0.66

 c.3331_3334del^a

p.Gln1111Asnfs^a5

Deletion

P

10,337

58

0.56

 c.470_471del

p.Ser157^a

Microsatellite

P

1,364

7

0.51

 c.536del

p.Tyr179fs

Deletion

P

210

1

0.48

 c.2086dup

p.Thr696Asnfs^a16

Duplication

P

1,170

3

0.26

 c.4484G>T

p.Arg1495Met

SNV

P

1,195

3

0.25

 c.66dup

p.Glu23Argfs^a18

Duplication

P

1,270

3

0.24

 c.2418del

p.Ala807Hisfs^a8

Deletion

P

1,264

3

0.24

 c.1969C>T

p.Gln657^a

SNV

P

1,270

3

0.24

 c.3481_3491del

p.Glu1161Phefs^a3

Deletion

P

1,270

3

0.24

 c.3627dup

p.Glu1210Argfs^a9

Duplication

P

1,270

3

0.24

 c.4136_4137del

p.Ser1379^a

Microsatellite

P

1,270

3

0.24

 c.2490_2497dup

p.Leu833Cysfs^a16

Duplication

P

1,170

2

0.17

 c.2906del

p.Asn969Ilefs^a31

Deletion

P

1,170

2

0.17

 c.3257T>A

p.Leu1086^a

SNV

P

1,170

2

0.17

 c.4891del

p.Ser1631Valfs^a2

Deletion

P

1,170

2

0.17

BRCA2

 c.156_157insAlu^a

p.Lys53delinsAlaGlyArgGlyArgSerArgLeuTer

Insertion

P

11,574

249

2.15

 c.2T>G

p.Met1Arg

SNV

P

215

4

1.86

 c.5934dup

p.Ser1979Ter

Duplication

P

94

1

1.06

 c.6656C>G

p.Ser2219Ter

SNV

P

94

1

1.06

 c.7738C>T

p.Gln2580Ter

SNV

P

94

1

1.06

 c.9004G>A

p.Glu3002Lys

SNV

P/LP

94

1

1.06

 c.7208_7211del

p.Thr2403fs

Microsatellite

P

210

2

0.95

 c.7975A>G

p.Arg2659Gly

SNV

P

325

3

0.92

 c.8642_8729dup

p.Ala2911LysfsTer25

Duplication

P

112

1

0.89

 c.8866_8988-2133dup

p.?

Insertion

P

112

1

0.89

 c.5436del

p.Glu1812AspfsTer3

Deletion

P

135

1

0.74

 c.8488-1G>A

p.?

SNV

P

1,426

7

0.49

 c.1310_1311del

p.Lys437ArgfsTer14

Deletion

P

210

1

0.48

 c.1423G>T

p.Glu475Ter

SNV

P

210

1

0.48

 c.6468_6469del

p.Gln2157fs

Deletion

P

210

1

0.48

 c.9098_9099insA

p.Gln3034fs

Insertion

P

210

1

0.48

 c.682-2A>C

p.?

SNV

P/LP

1,195

5

0.42

 c.5645C>A

p.Ser1882Ter

SNV

P

1,170

4

0.34

 c.8954-5A>G

p.?

SNV

P/LP

1,195

3

0.25

 c.5355dup

p.Ser1786Ter

Duplication

P

1,270

3

0.24

 c.8695C>T

p.Gln2899Ter

SNV

P

1,270

3

0.24

 c.9382C>T

p.Arg3128Ter

SNV

P

4,857

11

0.23

 c.4808del

p.Asn1603ThrfsTer14

Deletion

P

1,150

2

0.17

 c.956del

p.Asn319IlefsTer5

Deletion

P

1,170

2

0.17

 c.1368_1369dup

p.Lys457ArgfsTer4

Microsatellite

P

1,170

2

0.17

 c.4380_4381del

p.Ser1461LeufsTer4

Deletion

P

1,170

2

0.17

 c.5653dup

p.Cys1885LeufsTer15

Duplication

P

1,170

2

0.17

 c.5722_5723del

p.Leu1908ArgfsTer2

Microsatellite

P

1,170

2

0.17

 c.7007G>A

p.Arg2336His

SNV

P

1,170

2

0.17

 c.7631del

p.Gly2544AlafsTer7

Deletion

P

1,170

2

0.17