Table 4 Variants of uncertain significance (VUS) 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
a 273C>T c.154C>T p.Leu52Phe 3   2683A>C c.2564A>C p.Gln855Pro 1
  745C>T c.626C>T p.Pro209Leu 3 a 2845A>T c.2726A>T p.Asn909Ile 1
  1321G>A c.1202G>A p.Gly401Glu 2   3568C>G c.3449C>G p.Pro1150Arg 1
  5677A>G c.5558A>G p.Tyr1853Cys 2   4129A>G c.4010A>G p.Asp1337Gly 1
a 517G>A c.398G>A p.Arg133His 1   4253C>T c.4134C>T p.Val1378Val 1
  Unknown Unknown p.Arg166Ser 1   4879C>T c.4760C>T p.Ser1587Leu 1
  895A>T c.776A>T p.Glu259Val 1   5054G>C c.4935G>C p.Arg1645Ser 1
  1476G>C c.1357G>C p.Glu453Gln 1 a 5466A>C c.5347A>C p.Met1783Leu 1
a 1998G>A c.1879G>A p.Val627Ile 1   IVS17-9A>G c.5075-9A>G   1
  2646A>G c.2527A>G p.Thr843Ala 1      
BRCA2
a 281G>A c.53G>A p.Arg18His 4   6257T>G c.6029T>G p.Val2010Gly 1
a 6197A>C c.5969A>C p.Asp1990Ala 4   7777A>G c.7549A>G p.Thr2517Ala 1
a 779T>C c.551T>C p.Leu184Pro 3   7910A>T c.7682A>T p.Gln2561Leu 1
a IVS3-10A>G c.317-10A>G   3   8633C>T c.8405C>T p.Pro2802Leu 1
  851T>G c.623T>G p.Val208Gly 2   8719A>T c.8491A>T p.Met2831Leu 1
  5082T>A c.4854T>A p.Asp1618Glu 2   8927A>G c.8699A>G p.Asp2900Gly 1
  324T>G c.96T>G p.Phe32Leu 1   9394C>T c.9166C>T p.His3056Tyr 1
  478C>G c.250C>G p.Gln84Glu 1   10,049T>G c.9821T>G p.Leu3274Trp 1
  2978T>C c.2750T>C p.Val917Ala 1 a 661del3 c.433_435delGTT p.Val145del 1
  3648T>A c.3420T>A p.Ser1140Arg 1   IVS5+9A>T c.475+9A>T   1
  4655A>G c.4427A>G p.Asp1476Gly 1   IVS6-12C>A c.517-12C>A   1
  5410G>A c.5182G>A p.Asp1728Asn 1   IVS6-2A>G c.517-2A>G   1
  5545G>C c.5317G>C p.Glu1773Gln 1   IVS11-202 del20 c.6842-202_ 6842-183del   1
  1. Times: reported frequency
  2. aFavor polymorphism