Skip to main content

Table 1 Sequence variants identified in the BRCA1 gene

From: Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon

Nucleotide Change

AA change

Number of patients

Clinical Relevance (BIC)

Variation class§

Polyphen

SIFT

Align GVGD

Missense variations

250 G > T

C44F*

2

Unknown

5

+++

Not tolerated

Class 65

543 C > G

P142A*

1

Not reported

Not reported

++

Not tolerated

Class 0

585 C > A

L156I

1

Not reported

3

+

Not tolerated

Class 0

655A > G

Y179C†

2

Unknown

1

+++

Not tolerated

Class 45

1186A > G

Q356R

19

Unknown

1

+++

Not tolerated

Class 0

1575 T > C

F486L†

2

Unknown

1

+

Tolerated

Class 0

1767A > C

N550H†

2

Unknown

1

++

Not tolerated

Class 0

2196 G > A

D693N

11

No effect

1

+

Not tolerated

Class 0

2577A > G

K820E

1

Unknown

1

+

Tolerated

Class 0

2731 C > T

P871L

47

No effect

1

+

Tolerated

Class 0

3232A > G

E1038G

44

No effect

1

+

Not tolerated

Class 0

3238 G > A

S1040N

2

Unknown

1

+

Tolerated

Class 0

3646 T > A

V1176I

1

Unknown

Not reported

+

Tolerated

Class 0

3667A > G

K1183R

43

No effect

1

+

Tolerated

Class 0

4755 G > A

D1546N

1

Unknown

1

+

Tolerated

Class 0

4773 T > C

Y1552H

1

Not reported

3

++

Tolerated

Class 0

4956A > G

S1613G

45

No effect

1

+

Not tolerated

Class 0

5075 G > A

M1652I

2

Unknown

1

+

Tolerated

Class 0

Nonsense mutations

5563 G > A

W1815X

2

Deleterious

5

   

Synonyms

1964 T > C

S615S

2

Not reported

Not reported

   

2201 C > T

S694S

47

No effect

1

   

2430 T > C

L771L

45

No effect

1

   

4427 T > C

S1436S

44

Unknown

1

   

5306 G > C

L1729L

1

Not reported

Not reported

   

UTRs and Intronic variations

66-67delTA

5’-UTR

29

Not reported

Not reported

   

IVS2-91A > G

 

1

Not reported

Not reported

   

IVS5 + 45 T > A

 

1

Not reported

Not reported

   

IVS6 + 55 G > A

 

2

Not reported

3

   

IVS7 + 15delTTC

 

6

Not reported

Not reported

   

IVS7-34 C > T

 

17

No effect

1

   

IVS8-58delT

 

10

No effect

1

   

IVS11 + 106 G > A

 

64

Not reported

Not reported

   

IVS13 + 117 G > A

 

8

Unknown

Not reported

   

IVS14-63 C > G

 

25

Not reported

Not reported

   

IVS18 + 66 G > A

 

44

No effect

1

   

IVS19-26 G > A

 

2

Not reported

Not reported

   

IVS22 + 68 T > C

 

1

Unknown

3

   

c.5711 + 36 C > G

3’-UTR

1

Not reported

Not reported

   
  1. † Missense considered deleterious when associated.
  2. *Missense considered deleterious.
  3. Polyphen: +++ Variant predicted to be probably damaging, ++ Variant predicted to be possibly damaging, + Variant predicted to be benign.
  4. UMD-BRCA1/2: 1 Variant considered neutral, 2 Variant considered likely-neutral, 3 Variant considered unclassified, 4 Variant considered likely-causal, 5 Variant considered causal.
  5. § in the UMD-BRCA1 database (http://www.umd.be/BRCA1/) (12) using classification system in five classes (13).
Back to article page

Hereditary Cancer in Clinical Practice

ISSN: 1897-4287