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Table 3 Missense and intervening sequence variants identified

From: Evaluation of BRCA1 and BRCA2 mutations and risk-prediction models in a typical Asian country (Malaysia) with a relatively low incidence of breast cancer

  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
  1. Mutation classification was made based on published studies and analysis using PolyPhen. BIC, Breast Cancer Information Core.