|
Missense and intervening sequence variants identified |
||||||||
| No. |
Exon |
Nucleotide change |
AA change |
Reported |
Family (No.) |
Mutation classification |
Ethnicity |
|
|
|
||||||||
| BRCA1 |
1 |
7 |
491 C>A |
I124I |
Novel |
1 |
Benign? |
Malay |
| 2 |
9 |
690 G>A |
V191I |
Various |
2 |
Benign? |
Chinese |
|
| 3 |
11 |
873 C>T |
R252C |
Novel |
1 |
Deleterious? |
Malay |
|
| 4 |
11 |
914 T>C |
S265S |
Novel |
1 |
Benign? |
Chinese |
|
| 5 |
11 |
1155 C>T |
P346S |
Asian |
2 |
Benign? |
Chinese |
|
| 6 |
11 |
2405 A>T |
R762S |
Chinese [8] |
1 |
Benign? |
Malay |
|
| 7 |
11 |
2685 T>C |
Y856H |
Chinese |
6 |
Benign? |
Chinese |
|
| 8 |
11 |
2845 A>T |
N909I |
Chinese |
1 |
Benign? |
Chinese |
|
| 9 |
11 |
2858 T>A |
N913K |
Novel |
1 |
Benign? |
Chinese |
|
| 10 |
11 |
3050 A>G |
P977P |
Novel |
1 |
Benign? |
Chinese |
|
| 11 |
11 |
3781 A>C |
E1221A |
Novel |
1 |
Benign? |
Chinese |
|
| 12 |
11 |
3922 A>G |
N1268S |
Novel |
1 |
Benign? |
Malay |
|
| 13 |
16 |
5011 G>A |
S1631N |
Novel |
1 |
Benign? |
Chinese |
|
| 14 |
24 |
5623 G>A |
R1835Q |
Novel |
1 |
Benign? |
Malay |
|
| 15 |
IVS 1-10 T>C |
Various |
1 |
Not clinically relevant [43] |
Malay |
|||
| 16 |
IVS 12-10 G>A |
Various |
1 |
Deleterious? |
Indian |
|||
|
|
||||||||
| BRCA2 |
1 |
3 |
443 A>G |
N72S |
Novel |
1 |
Benign? |
Chinese |
| 2 |
5 |
668 A>G |
Q147R |
Asian, various |
2 |
Benign? |
1 Malay, 1 Chinese |
|
| 3 |
10 |
1171 T>A |
C315S |
Asian |
2 |
Benign? |
Chinese |
|
| 4 |
10 |
1503 A>G |
E425E |
Novel |
1 |
Benign? |
Chinese |
|
| 5 |
10 |
1590 A>G |
K454K |
Novel |
3 |
Benign? |
Chinese |
|
| 6 |
10 |
1828 G>A |
E534K |
Novel |
1 |
Deleterious? |
Malay |
|
| 7 |
10 |
1872 G>A |
Q548Q |
Various |
1 |
Benign? |
Chinese |
|
| 8 |
10 |
1875 G>A |
K549K |
Novel |
1 |
Benign? |
Chinese |
|
| 9 |
10 |
2053 C>G |
Q609E |
Novel |
1 |
Benign? |
Malay |
|
| 10 |
11 |
2906 A>G |
Q893R |
Novel |
1 |
Benign? |
Malay |
|
| 11 |
11 |
3648 T>C |
S1140S |
Chinese [8] |
1 |
Benign? |
Chinese |
|
| 12 |
11 |
3673 A>G |
M1149V |
Asian, various |
3 |
Benign? |
2 Malay, 1 Chinese |
|
| 13 |
11 |
3903 A>G |
T1225T |
Novel |
1 |
Benign? |
Malay |
|
| 14 |
11 |
4010 C>G |
S1261C |
Novel |
1 |
Deleterious? |
Malay |
|
| 15 |
11 |
4806 A>G |
T1526T |
Novel |
1 |
Benign? |
Other |
|
| 16 |
11 |
5395 A>C |
T1723P |
Novel |
1 |
Benign? |
Malay |
|
| 17 |
11 |
5540 G>A |
G1771D |
Various |
1 |
Not clinically relevant [BIC] |
Malay |
|
| 18 |
11 |
5863 G>A |
E1879K |
Caucasian |
1 |
Benign? |
Indian |
|
| 19 |
11 |
6013 A>G |
I1929V |
Asian, various |
1 |
Not clinically relevant [BIC] |
Chinese |
|
| 20 |
11 |
6550 C>T |
R2108C |
Various |
3 |
Benign? |
2 Malay, 1 Chinese |
|
| 21 |
12 |
7157 C>A |
T2310N |
Novel |
1 |
Deleterious? |
Indian |
|
| 22 |
17 |
8169 A>C |
L2647L |
Novel |
1 |
Benign? |
Malay |
|
| 23 |
18 |
8415 G>T |
K2729N |
Asian, various |
1 |
Not clinically relevant [44] |
Chinese |
|
| 24 |
19 |
8584 G>A |
A2786T |
Novel |
1 |
Deleterious? |
Chinese |
|
| 25 |
21 |
8930 G>A |
G2901D |
Asian |
1 |
Deleterious? |
Chinese |
|
| 26 |
23 |
9332 A>G |
Y3035C |
Caucasian |
1 |
Deleterious? |
Chinese |
|
| 27 |
23 |
9334 C>G |
Q3036E |
Novel |
1 |
Benign? |
Chinese |
|
| 28 |
27 |
10135 A>T |
S3303C |
Novel |
1 |
Deleterious? |
Other |
|
| 29 |
27 |
10462 A>G |
I3412V |
Various |
1 |
Not clinically relevant [45] |
Chinese |
|
| 30 |
IVS 2-7T>A |
Caucasian |
1 |
Deleterious? |
Malay |
|||
| 31 |
IVS 7-10 insT |
Novel |
1 |
Deleterious? |
Other |
|||
|
Mutation classification was made based on published studies and analysis using PolyPhen. BIC, Breast Cancer Information Core. | ||||||||
Thirthagiri et al. Breast Cancer Research 2008 10:R59 doi:10.1186/bcr2118 |
||||||||