Table 3 Deleterious mutations of BRCA1 and BRCA2 in the Japanese population

From: Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan

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
  1. Times: reported frequency
  2. aSuspected deleterious