. 2017 Nov 8;63(4):447–457. doi: 10.1038/s10038-017-0355-1

Table 4.

Variants of uncertain significance (VUS) 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
^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

Times: reported frequency

^aFavor polymorphism