Table 3.

Frequency of unclassified variants of BRCA1 and BRCA2 genes in Korean breast cancer patients and healthy controls

Gene	GRCh38.p2	Exon/Intron	BIC nomenclature	Nucleotide (NM_000059.3)	Amino acids (NP_000050.2)	dbSNP144	Breast cancer patients (n=328)	1000G ALL	1000G EAS	Controls (n=421)	Genotype frequency
BRCA1	43,106,514	5	273C>T	c.154C>T	p.Leu52Phe	rs80357084	3	-	-	5	0.012
	43,099,761	IVS8	666+14delG	c.547+14delG	-	rs273902771	2	-	-	1	0.002
	43,092,965	11	2685T>C	c.2566T>C	p.Tyr856His	rs80356892	19	0.003	0.014	14	0.033
	43,092,083	11	3567C>T	c.3448C>T	p.Pro1150Ser	rs80357272	5	0.001	0.004	1	0.002
	43,071,031	16	5002T>C	c.4883T>C	p.Met1628Thr	rs4986854	8	0.003	0.012	11	0.026
	43,049,188	22	5458T>C	c.5339T>C	p.Leu1780Pro	rs80357474	4	-	-	0	0
BRCA2	32,332,421	10	1171T>A	c.943T>A	p.Cys315Ser	rs79483201	3	0.002	0.008	2	0.005
	32,333,222	10	1972A>C	c.1744A>C	p.Thr582Pro	rs80358457	2	0.000	0.002	7	0.017
	32,336,705	11	2578A>C	c.2350A>G	p.Met784Val	rs11571653	6	0.004	0.018	9	0.021
	32,337,575	11	3448A>T	c.3220A>T	-	rs145605603	2	0.000	0.001	1	0.002
	32,340,384	11	6257T>G	c.6029T>G	p.Val2010Gly	rs80358839	3	-	-	0	0
	32,340,680	11	6553G>A	c.6325G>A	p.Val2109Ile	rs79456940	3	0.000	0.002	3	0.007
	32,354,905	13	7280C>G	c.7052C>G	p.Ala2351Gly	rs80358932	3	0.001	0.004	3	0.007
	32,356,514	15	7750G>A	c.7522G>A	p.Gly2508Ser	rs80358978	2	-	-	0	0
	32,363,389	18	8415G>T	c.8187G>T	p.Lys2729Asn	rs80359065	10	0.003	0.012	10	0.024

BIC, Breast Cancer Information Core; 1000G ALL, minor allele frequency from all population in the 1000 Genomes Phase 3 database; 1000G EAS, minor allele frequency from East-Asian population in the 1000 Genomes Phase 3 database.