Table 3.
Deleterious mutations of BRCA1 and BRCA2 in the Japanese population
| Base pair change | Amino-acid change | Times | Base pair change | Amino-acid change | Times | ||||
|---|---|---|---|---|---|---|---|---|---|
| Myriad | HGVS | HGVS | Myriad | HGVS | HGVS | ||||
| BRCA1 | |||||||||
| 307T>A | c.188T>A | p.Leu63Ter | 26 | 3699ins4 | c.3580_3581 insACCC | p. Thr1194AsnfsThr26 | 1 | ||
| 2919C>T | c.2800C>T | p.Gln934Ter | 6 | 4184del4 | c.4065_4068 delTCAA | p.Asn1355LysfsTer10 | 1 | ||
| 2508delGA | c.2389_2390delGA | p.Glu797ThrfsTer3 | 4 | 4457ins4 | c.4338_4339 insTCAA | p. Gln1447SerfsTer16 | 1 | ||
| 3561delG | c.3442delG | p.Glu1148ArgfsTer7 | 4 | 5291insA | c.5172dupA | p.Glu1725ArgfsTer7 | 1 | ||
| 297C>T | c.178C>T | p.Gln60Ter | 2 | 5589del8 | c.5470_5477 delATTGGGCA | p.Ile1824AspfsTer3 | 1 | ||
| 309T>C | c.190T>C | p.Cys64Arg | 2 | 546G>T | c.427G>T | p.Glu143Ter | 1 | ||
| 3759G>T | c.3640G>T | p.Glu1214Ter | 2 | 1173G>T | c.1054G>T | p.Glu352Ter | 1 | ||
| a | 5083C>T | c.4964C>T | p.Ser1655Phe | 2 | 1740C>T | c.1621C>T | p.Gln541Ter | 1 | |
| 575delCA | c.456_457delCA | p.Ser153CysfsTer5 | 2 | 190G>A | c.71G>A | p.Cys24Tyr | 1 | ||
| Exon1a–Exon2del | c.(?_-1387-1)_ (80+1_81-1)del | 2 | 2178C>T | c.2059C>T | p.Gln687Ter | 1 | |||
| IVS20-1G>C | c.5278-1G>C | 2 | 2841G>T | c.2722G>T | p.Glu908Ter | 1 | |||
| 185insA | c.66dupA | p. Glu23ArgfsThr18 | 1 | 3471C>T | c.3352C>T | p.Gln1118Ter | 1 | ||
| 185delAG | c.68_69delAG | p.Glu23ValfsThr17 | 1 | 360C>T | c.241C>T | p.Gln81Ter | 1 | ||
| 589delCT | c.470_471delCT | p.Ser157Terfs | 1 | 3992T>A | c.3873T>A | p.Cys1291Ter | 1 | ||
| 604delTG | c.485_486delTG | p.Val162GlufsTer19 | 1 | 5622C>T | c.5503C>T | p.Arg1835Ter | 1 | ||
| 819delA | c.700delA | p.Thr234GlnfsTer13 | 1 | a | 5264C>A | c.5145C>A | p.Ser1715Arg | 1 | |
| 1158delCT | c.1039_1040delCT | p.Leu347ValfsTer2 | 1 | EXON1a-9del | c.(?_-1387-1)_ (593+1_594-1)del | 1 | |||
| 1343delA | c.1224delA | p.Val409Ter | 1 | EXON3del | c.(80+1_81-1)_ (134+1_135-1)del | 1 | |||
| 1406insA | c.1287dupA | p.Asp430ArgfsTer6 | 1 | EXON8del | c.(441+1_442-1)_ (546+1_547-1)del | 1 | |||
| 1623del5 | c.1504_1508 delTTAAA | p.Leu502AlafsTer2 | 1 | EXON20del | c.(5193+1_5194-1)_(5277+1_5278-1) del | 1 | |||
| 2632delA | c.2513delA | p.Asn838ThrfsTer8 | 1 | a | IVS4-2A>C | c.135-2A>C | 1 | ||
| 2730delCC | c.2611_2612delCC | p.Pro871ValfsTer31 | 1 | a | IVS4-2A>G | c.135-2A>G | 1 | ||
| 2805delA | c.2686delA | p.Ser896Valfs104 | 1 | IVS17+3A>G | c.5074+3A>G | 1 | |||
| BRCA2 | |||||||||
| 5804del4 | c.5576_5579 delTTAA | p.Ile1859LysfsTer3 | 8 | 6674del5 | c.6446_6450 delTTAAA | p.Ile2149SerfsTer25 | 1 | ||
| 1506delA | c.1278delA | p.Asp427ThrfsTer3 | 5 | 6696delTC | c.6468_6469delTC | p.Gln2157IlefsTer18 | 1 | ||
| 8732C>A | c.8504C>A | p.Ser2835Ter | 4 | 6744delA | c.6516delA | p.Val2174LeufsTer17 | 1 | ||
| 9345G>A | r.[8954_9117del] c.9117G>A | p.Val2985GlyfsTer4 p.Pro3039= | 4 | 6848del4 | c.6620_6623 delCAAA | p.Thr2207IlefsTer2 | 1 | ||
| 7180C>T | c.6952C>T | p.Arg2318Ter | 3 | 6854delTA | c.6626_6627delTA | p.Ile2209ArgfsTer15 | 1 | ||
| 8817insA | c.8589dupA | p.Ala2864SerfsTer5 | 3 | 7004del4 | c.6776_6779 delATGA | p.Asn2259ArgfsTer20 | 1 | ||
| 8857G>T | c.8629G>T | p.Glu2877Ter | 2 | 7661insT | c.7433dupT | p.Leu2478PhefsTer19 | 1 | ||
| 9304C>T | c.9076C>T | p.Gln3026Ter | 2 | 7865insT | c.7638dupT | p.Lys2547Ter | 1 | ||
| 3423del4 | c.3195_3198 delTAAT | p.Asn1066LeufsTer10 | 2 | 1627A>T | c.1399A>T | p.Lys467Ter | 1 | ||
| 3463delT | c.3235delT | p.Ser1079LeufsTer8 | 2 | 4123G>T | c.3895G>T | p.Glu1299Ter | 1 | ||
| 983del4 | c.755_758 delACAG | p.Asp252ValfsTer24 | 1 | 4250C>A | c.4022C>A | p.Ser1341Ter | 1 | ||
| 1033insA | c.805dupA | p. Thr269AsnfsTer7 | 1 | 4917G>A | c.4689G>A | p.Trp1563Ter | 1 | ||
| 1524delGA | c.1296_1297 delGA | p.Asn433GlnfsTer18 | 1 | 6369T>G | c.6141T>G | p.Tyr2047Ter | 1 | ||
| 1866del13 | c.1638_1650del13 | p. Cys546TrpfsTer8 | 1 | 6856G>T | c.6628G>T | p.Glu2210Ter | 1 | ||
| 2041delA | c.1813delA | p.Ile605TyrfsTer9 | 1 | 7708C>T | c.7480C>T | p.Arg2494Ter | 1 | ||
| 2041insA | c.1813dupA | p.Ile605AsnfsTer11 | 1 | 7786C>T | c.7558C>T | p.Arg2520Ter | 1 | ||
| 3036del4 | c.2808_2811 delACAA | p.Ala938ProfsTer21 | 1 | 5873C>A | c.5645C>A | p.Ser1882Ter | 1 | ||
| 3292delC | c.3064delC | p.His1022IlefsTer22 | 1 | 9337C>T | c.9109C>T | p.Gln3037Ter | 1 | ||
| 3827delGT | c.3599_3600delGT | p.Cys1200Terfs | 1 | 9610C>T | c.9382C>T | p.Arg3128Ter | 1 | ||
| 4692delCA | c.4464_4465delCA | p.His1488GlnfsTer25 | 1 | a | 319T>A | c.91T>A | p.Trp31Arg | 1 | |
| 4796delG | c.4568delG | p.Gly1523ValfsTer20 | 1 | 7235G>A | c.7007G>A | p.Arg2336His | 1 | ||
| 5358del4 | c.5130_5133 delTGTA | p.Tyr1710Terfs | 1 | a | 8251A>G | c.8023A>G | p.Ile2675Val | 1 | |
| 5903delG | c.5675delG | p.Gly1892ValfsTer17 | 1 | 9382C>T | c.9154C>T | p.Arg3052Trp | 1 | ||
| 5999del4 | c.5771_5774 delTTCA | p.Ile1924ArgfsTer38 | 1 | IVS15+1G>T | c.7601+1G>T | 1 | |||
| 6386delC | c.6158delC | p.Ser2053LeufsTer17 | 1 | a | IVS5+1G>A | c.475+1G>A | 1 | ||
| 6673delAT | c.6445_6446delAT | p.Ile2149Terfs | 1 | a | IVS8-1G>T | c.682-1G>T | 1 | ||
Times: reported frequency
aSuspected deleterious