Summary of Published and Unpublished BRCA1 Mutations in the Netherlands and Belgium

Exon Nucleotide Base Change Codon AA Change Designation Times found
2 120 A to G 1 Met to Val M1V 1
2 153 C to T 12 Gln to Stop Q12X 1
2 185 ins A 22 Stop 40 185insA 28
2 185 del AG 23 Stop 39 185delAG 35
5 310 G to A 64 Cys to Tyr C64Y 3
5 331 +3 A to G   - IVS5+3A>G 14
6 332 -12 A to G   - IVS5-12A>G 6
6 351 del A 78 Stop 87 351delA 1
7 421 -3 C to G   - IVS6-3C>G 2
7 546 G to T 143 Glu to Stop E143X 1
8 561 del 1,458   Stop 183 IVS7-1129del1458 1
8 612 del CT 165 Stop 180 612delCT 2
11 1129 del A 339 Stop 340 1129delA 2
11 1135 ins A 339 Stop 345 1135insA 2
11 1185 C to T 356 Gln to Stop Q356X 4
11 1191 del C 357 Stop 377 1191delC 1
11 1235 G to A 372 Trp to Stop W372X 1
11 1240 del C 374 Stop 376 1240delC 3
11 1406 ins A 429 Stop 434 1406insA 5
11 1408 ins G 430 Stop 443 1408insG 1
11 1411 ins T 431 Stop 434 1411insT 34
11 1438 del T 440 Stop 440 1438delT 3
11 1623 del TTAAA 502 Stop 505 1623del5 2
11 1648 C to G 510 Ser to Stop S510X 4
11 1740 C to T 541 Gln to stop Q541X 1
11 1806 C to T 563 Gln to Stop Q563X 2
11 1833 G to T 572 Glu to Stop E572X 1
11 1858 Ins Alu 580 Stop 1858insAlu 1
11 2000 del CAGT 627 Stop 630 2000del4 1
11 2080 del A 654 Stop 700 2080delA 5
11 2138 del A 673 Stop 700 2138delA 16
11 2246 ins GA 710 Stop 736 2246insGA 1
11 2312 del AGAAG 731 Stop 736 2312del5 49
11 2316 del GAGAA 732 Stop 736 2316del5 1
11 2329 del C 737 Stop 752 2329delC 2
11 2331 del GTTA 738 Stop 739 2331del4 1
11 2355 ins G 746 Stop 761 2355insG 1
11 2457 C to T 780 Gln to Stop Q780X 20
11 2479 ins G 787 Stop 789 2479insG 5
11 2524 del TG 802 Stop 808 2524delTG 2
11 2718 C to T 867 Gln to Stop Q867X 1
11 2722 C to G 868 Ser to Stop S868X 1
11 2765 del TGC 882 Stop 882 C882X 3
11 2800 del AA 894 Stop 901 2800delAA 1
11 2804 del AA 895 Stop 901 2804delAA 71
11 2809 ins A 897 Stop 902 2809insA 2
11 2841 G to T 908 Glu to Stop E908X 11
11 2845 ins A 909 Stop 914 2845insA 1
11 2845 del A 909   2845delA 1
11 2846 del TCAA 909 Stop 998 2846del4 1
11 2883 del ACAG 922 Stop 998 2883del4 1
11 3053 T to G 978 Tyr to Stop Y978X 1
11 3109 ins AA 997 Stop 999 3109insAA 12
11 3131 del G 1004 Stop 1023 3131delG 1
11 3398 del C 1093 Stop 1108 3398delC 1
11 3448 ins A 1110 Stop 1114 3448insA 1
11 3600 del 11 1161 Stop 1163 3600del11 4
11 3604 del A 1162 Stop 1209 3604delA 15
11 3668 AG to T 1222 Stop 1248 3668AG>T 5
11 3726 C to T 1203 Arg to Stop R1203X 1
11 3745 T to G 1209 Leu to Stop L1209X 1
11 3759 G to T 1214 Glu to Stop E1214X 3
11 3780 G to T 1221 Glu to Stop E1221X 2
11 3795 del 4 1126 Stop 1233 3795del4 1
11 3829 del T 1237 Stop 1263 3829delT 1
11 3867 G to T 1250 Glu to Stop E1250X 16
11 3875 del GTCT 1252 Stop 1262 3875del4 5
11 3889 del AG 1257 Stop 1265 3889delAG 5
11 3938 ins G 1273 Stop 1286 3938insG 9
11 3960 C to T 1281 Gln to Stop Q1281X 6
11 4184 del TCAA 1355 Stop 1364 4184del4 2
11 4207 C to G 1363 Stop 1363 S1363X 1
12 4284 del AG 1389 Stop 1389 4284delAG 3
12 4302 C to T 1395 Gln to Stop Q1395X 2
13 4303 -1511 del 14,098 1396 Del 1396-1662 IVS12-1511del14098 1
13 4303 -1643 del 3,835 1396 Stop 1398 IVS12-1643del3835 48
13 4370 del GT 1417 Stop 1426 4370delGT 1
13 4446 C to T 1443 Arg to Stop R1443X 13
14 4473 del exon 14-15   - Del exon 14/15 2
14 4510 del 3/ ins TT 1464 Stop 1465 4510del3insTT 1
14 4535 TT to G 1471 Stop 1475 4535delTTinsG 4
15 4694 del 11 1525 Stop 1526 4694del11 1
17 5149 del CTAA 1677 Stop 1678 5149del4 1
17 5159 del T 1680 Stop 1689 5159delT 1
18 5255 G to A 1712 Stop 1712 W1712X 1
18 5256 del G 1713 Stop 1713 5256delG 3
19 5274 -1 G to A   - IVS18-1G>A 1
19 5296 del GA 1726 Stop 1730 5296delGA 3
19 5310 +2 del T   - IVS19+2delT 1
20 5311 -2980 del 11,561 1722 Del 1722-1803 IVS19-2980del11561 1
20 5370 C to T 1751 Arg to Stop R1751X 4
20 5382 ins C 1755 Stop 1829 5382insC 41
20 5385 C to T 1756 Stop 1756 Q1756X 1
20 5389 del 7 1757 Stop 1762 5389del7 1
20 5396 +1 G to A   - IVS20+1G>A 58
21 5448 ins C 1777 Stop 1829 5448insC 1
22 5452 -31 del 510 1778 Stop 1805 IVS21-36del510 91
22 5465 G to A 1782 Trp to Stop W1782X 2
22 5526 +5 G to A   - IVS22+5G>A 3
24 5622 C to T 1835 Arg to Stop R1835X 10
24 5622 del 62 1835 Stop 1858 5622del62 3
756

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