| 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 |