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Table 3 Common polymorphisms and intronic variants of BRCA 1 gene identified

From: Novel sequence variants and a high frequency of recurrent polymorphisms in BRCA1gene in Sri Lankan breast cancer patients and at risk individuals

E/I

NT

Base Change

Codon

AA Change

Designation

Variation type

BIC Entry

I-7

560+36

C>T

Non- coding

--

IVS7+36T>C

UV

No

I-7

560+38

T>C

Non- coding

--

IVS7+38T>C

UV

Yes

I-7

560+41

C>T

Non- coding

--

IVS7+41C>T

UV

No

I-7

560+49

DelT

Non- coding

--

IVS7+49del15

UV

No

I-8

561-34

C>T

Non- coding

--

IVS7-34C>T

IVS

Yes

11-B

2196

G>A

693

Asp > Asn

c.2196G>A

M-P

Yes

11-B

2201

C>T

694

Ser>Ser

c.2201C>T

Silent-P

Yes

11-B

2430

T>C

771

Leu>Leu

c.2430T>C

Silent-P

Yes

11-C

2731

C>T

871

Pro>Leu

c.2731C>T

M-P

Yes

11-C

3232

A>G

1038

Glu>Gly

c.3232A>G

M-P

Yes

11-D

3667

A>G

1183

Lys>Arg

c.3667A>G

M-P

Yes

13

4427

T>C

1436

Ser>Ser

c.4427T>C

Silent-P

Yes

16

4931

A>G

1604

Gln>Gln

c.4931A>G

Silent-P

Yes

16

4956

A>G

1613

Ser>Gly

c.4956A>G

M-P

Yes

16

5075

A>G

1652

Met>Ile

c.5075G>A

M-P

Yes

  1. E/I: Exon/Intron, M: missense alteration, P: polymorphism, UV: unclassified variant