Summary of Published and Unpublished BRCA2 Mutations in the Netherlands and Belgium

Exon Nucleotide Base Change Codon AA Change Designation Times found
3 384 ins Alu 128 Stop 137 384insAlu 1
3 517 G to T 97 Glu to Stop E97X 1
5 690 del AA 154 Stop 157 690delAA 1
5 697 del AA 157 Stop 769 697delAA 1
6 744 +1 G to T     IVS6+1G>T 1
7 809 G to A 194 Trp to Stop W194X 1
8 862 del AG 212 Stop 214 862delAG 1
10 1222 del A 332 Stop 348 1222delA 1
10 1372 del A 382 Stop 398 1372delA 1
10 1375 del A 383 Stop 398 1375delA 2
10 1415 del 14 395   1415del14 1
10 1430 C to G 401 Stop 401 S401X 1
10 1537 del AAAG 437 Stop 458 1537del4 5
10 1538 del AAGA 438 Stop 458 1538del4 2
10 1617 del AG 463 Stop 466 1617delAG 3
10 1898 T to G 557 Stop 557 L557X 1
10 1933 del C 569 Stop 572 1933delC 1
10 2000 del TTAT 590 Stop 612 2000del4 1
10 2041 ins A 605 Stop 615 2041insA 2
10 2128 ins TT 634 Stop 644 2128insTT 1
11 2812 del 7 862 Stop 871 2812del7 1
11 3034 del AAAC 936 Stop 958 3034del4 7
11 3036 del ACAA 936 Stop 958 3036del4 4
11 3185 ins A 986 Stop 987 3185insA 2
11 3420 del AATT 1064 Stop 1075 3420del4 1
11 3449 del GTAGT 1074 Stop 1078 3449del5 1
11 3497 del T 1090 Stop 1118 3497delT 1
11 3511 C to T 1095 Gln to Stop Q1095X 1
11 3681 ins T 1151 Stop 1153 3681insT 1
11 3715 del G 1163 Stop 1167 3715delG 1
11 3821 del A 1198 Stop 1208 3821delA 1
11 3827 del GT 1200 Stop 1200 3827delGT 2
11 4000 del A 1258 Stop 1258 4000delA 1
11 4094 del AA 1289 Stop 1296 4094delAA 1
11 4150 G to T 1308 Phe to Stop E1308X 1
11 4416 del A 1396 Stop 1409 4416delA 1
11 4542 del C 1438 Stop 1447 4542delC 1
11 4637 del TAAGA 1470 Stop 1480 4637del5 1
11 4677 del A 1483 Stop 1485 4677delA 3
11 4684 del GTTA 1486 Stop 1491 4684del4 2
11 4700 del 4 1491 Stop 1502 4700del4 1
11 4705 ins A 1494 Stop 1513 4705insA 2
11 4706 del AAAG 1493 Stop 1502 4706del4 1
11 4761 del A 1511 Stop 1542 4761delA 1
11 4763 del G 1512 Stop 1542 4763delG 1
11 4783 del C 1519 Stop 1542 4783delC 1
11 5163 del A 1645 Stop 1669 5163delA 3
11 5359 del 4 1711 Stop 1723 5359del4 1
11 5408 del A 1727 Stop 1740 5408delA 1
11 5441 del CTTA 1738 Stop 1739 5441del4 5
11 5514 T to A 1762 Tyr to Stop Y1462X 2
11 5578 del AA 1784 Stop 1786 5578delAA 1
11 5579 ins A 1784 Stop 1786 5579insA 7
11 5805 del TAAA 1859 Stop 1862 5805del4 3
11 5823 del AT 1865 Stop 1874 5823delAT 3
11 5837 TC to AG 1870 Phe to Stop F1870X 1
11 5873 C to A 1882 Ser to Stop S1882X 11
11 5909 ins A 1894 Stop 1894 5909insA 2
11 5910 C to G 1894 Tyr to Stop Y1894X (C>G) 5
11 5950 del CT 1908 Stop 1910 5950delCT 2
11 5999 del TTCA 1924 Stop 1961 5999del4 3
11 6076 del GTAA 1950 Stop 1962 6076del4 1
11 6085 G to T 1953 Glu to Stop E1953X 3
11 6174 del T 1982 Stop 2003 6174delT 11
11 6498 del TA 2090 Stop 2098 6498delTA 4
11 6503 del TT 2092 Stop 2098 6503delTT 31
11 6508 del 7 2094 Stop 2116 6508del7 1
11 6580 del GT 2118 Stop 2127 6580delGT 1
11 6626 ins T 2133 Stop 2135 6626insT 1
11 6633 del CTTAA 2135 Stop 2137 6633del5 1
11 6648 ins A 2216 Stop 2146 6648insA 1
11 6651 ins G 2141 Stop 2145 6651insG 1
11 6672 del TATT 2148 Stop 2166 6672del4 1
11 6714 del ACAA 2162 Stop 2166 6714del4 1
11 6775 G to T 2183 Glu to Stop E2183X 1
11 6819 del TG 2197 Stop 2201 6819delTG 2
11 6831 del TG 2201 Stop 2223 6831delTG 1
11 6872 del ACTC 2215 Stop 2227 6872del4 4
11 6991 ins A 2255 Stop 2260 6991insA 1
11 7044 del AA 2272 Stop 2291 7044delAA 3
14 7320 del A 2364 Stop 2366 7320delA 1
14 7647 del GT 2473 Stop 2473 7647delTG 6
15 7795 del CT 2523 Stop 2537 7795delCT 1
17 8034 -1 G to T   - IVS16-1G>T 1
18 8286 del T 2686 Stop 2693 8286delT 2
18 8295 T to A 2689 Cys to Stop C2689X 3
18 8406 T to A 2726 Tyr to Stop Y2726X 1
22 9132 del C 2968 Stop 2975 9132delC 1
23 9291 del 16 3022 Stop 9291del16 2
23 9327 del TC 3033 Stop 3042 9327delTC 1
23 9345 +1 G to A   - IVS23+1G>A 1
24 9484 +1 G to A   Stop 3103 IVS24+1G>A 1
25 9610 C to T 3128 Arg to Stop R3128X 1
27 9900 ins A 3224 Stop 3254 9900insA 5
27 9927 del TATG 3233 Stop 3248 9927del4 1
218

Updated on 25-01-2002
By Peter Devilee & Frans Hogervorst
Email: p.devilee@lumc.nl