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Table 2 Found variants in the BRCA1 gene and exon 11 of the BRCA2 gene

From: Mutational analysis of BRCA1 and BRCA2 genes in women with familial breast cancer from different regions of Colombia

Gene

Fragment

Number of patients

Identified alteration

A.A

Classification of alteration

Reported in databases

Clinical significance –BIC

BRCA1

7

1

c.412 C > A

p.Leu138Ile

Non-synonymous (M)

NO

NA

11

2

c.4186-22G > A

NA

Intronic

NO

NA

11

2

c.2077 G > A

p.Asp693Asn

Non-synonymous (M)

YES

Neutral

11

2

c.2079 G > A

p.Asp693Asp

Synonymous

YES

Unknow

11

30

c.2082 C > T

p. Ser694Ser

Synonymous

YES

Neutral

11

2

c.2146 T > A

p.Ser716Arg

Non-synonymous (M)

NO

NA

11

13

c.2311 T > C

p.Leu771Leu

Synonymous

YES

Neutral

11

2

c.2368 A > G

p.Thr790Ala

Non-synonymous (M)

YES

Unknow

11

64

c.2612 C > T

p.Pro871Leu

Non-synonymous (M)

YES

Neutral

11

2

c.2876G > A

p.Arg959Lys

Non-synonymous (M)

NO

NA

11

3

c.3083G > A

p.Arg1028His

Non-synonymous (M)

YES

Unknow

11

27

c.3113A > G

p.Glu1038Gly

Non-synonymous (M)

YES

Neutral

11

1

c.3506A > C

p.Asp1169Ala

Non-synonymous (M)

NO

NA

11

20

c.3548A > G

p.Lys1183Arg

Non-synonymous (M)

YES

Neutral

11

1

c.3978 T > G

p.His1326Gln

Non-synonymous (M)

NO

NA

11

4

c.4033G > A

p.Glu1345Lys

Non-synonymous (M)

NO

NA

13

8

c.4308 T > C

P.Ser1436Ser

Synonymous

YES

Unknow

16

17

c.4837A > G

P.Ser1613Gly

Non-synonymous (M)

YES

Neutral

BRCA2

11.0

1

c.1909-37dup

NA

Intronic (IVS)

NO

NA

11.0

9

c.1909-33delA

NA

Intronic (IVS)

NO

NA

11.1

1

c.2147A > G

p.Gln716Arg

Non-synonymous (M)

NO

NA

11.1

2

c.2229 T > C

p.His743His

Synonymous (Syn)

YES

Neutral

11.1

1

c.2313A > T

p.Leu771Phe

Non-synonymous (M)

NO

NA

11.1

18

c.2386G > A

p.Asp796Asn

Non-synonymous (M)

NO

NA

11.1

1

C.2454 T > A

p.Asn818Lys

Non-synonymous (M)

NO

NA

11.2

1

c.2574_2575insA

p.Val859Ser*22

Non-sense (N)

NO

NA

11.3

7

c.2971A > G

p.Asn991Asp

Non-synonymous (M)

YES

Neutral

11.3

1

c.3095ª > T

p.Lys1032Ile

Non-synonymous (M)

NO

NA

11.4

23

c.3396 T > G

p.Lys1132Lys

Synonymous (Syn)

YES

Neutral

11.5

8

c.3807 T > C

p.Val1269Val

Synonymous (Syn)

YES

Neutral

11.7

80

c.4563A > G

p.Leu1521Leu

Synonymous (Syn)

YES

Neutral

11.13

75

c.6513C > G

p.Val2171Val

Synonymous (Syn)

YES

Neutral

11.14

3

c.6841 + 80_6841 + 83delTTAA

NA

Intronic (IVS)

YES

Neutral

  1. M = misense, N = nonsense