Table 2

BRCA1 and BRCA2 alleles detected in a Nigerian cohort

Patient	BRCA gene	Base change	Exon	Predicted amino acid effect	No of times in 39 pts	No in 74 unaffected individuals	BIC designation (occurrences in BIC)	Global heterozygosity
Alleles reported here for the first time or found only in Africans or African Americans are in bold. Global heterozygosity frequency was known only in some cases. The heterozygosity frequency of BRCA1 K1183R was taken from the NCBI SNP page <http://www.ncbi.nlm.nih.gov/SNP/>, and the rest were taken from Wagner et al.²⁹ The asterisk indicates alleles reported in patients of African ancestry and at least one patient of unreported ethnicity. Such alleles could be specific to populations of African ancestry, but this cannot be determined by the information available in BIC. For example, the BRCA2 L1521L variant was shown to be specific to African individuals in the study by Wagner et al.²⁹
ND, not determined; (P), polymorphism; pts, patients; trunc, truncating; UV, unclassified variant.
Single nucleotide substitutions
1	BRCA1	1256T→G	11	I379M	1	ND	UV (15)
2	BRCA1	2577A→G	11	K820E	1	ND	UV (28)
3	BRCA1	2933A→G	11	P938P	1	ND	P (2)
4	BRCA1	3667A→G	11	K1183R	1	ND	P (32)	0.403
5	BRCA2	970G→A	9	A248T	1	0	UV (1)
6	BRCA2	1093A→C	10	N289H	1	ND	UV (2)	0.120
7	BRCA2	1503A→G	10	E425E	2	ND	1st report (0)
8	BRCA2	A2366T	11	Q713L	2	0	UV* (8)
9	BRCA2	3014T→C	11	L929S	1	5	UV (29)
10	BRCA2	3188A→T	11	N987I	1	2	UV (29)
11	BRCA2	3199A→G	11	N991D	4	3	UV (1)	0.15
12	BRCA2	3492T→C	11	P1088P	2	ND	P (6)
13	BRCA2	4299A→C	11	L1357L	1	ND	1st report (0)
14	BRCA2	4469C→T	11	T1414M	1	1	UV (26)	0.012
15	BRCA2	4791G→A	11	L1521L	1	ND	P* (2)	0.018
16	BRCA2	5646A→G	11	E1806E	2	ND	1st report (0)
17	BRCA2	5932G→A	11	D1902N	1	0	UV (59)	0.012
18	BRCA2	5938 C→G	11	L1904V	2	0	UV (8)
19	BRCA2	6741 C→G	11	V2171V	4	16	P (1)	0.018
20	BRCA2	7378C→A	14	Q2384K	1	0	UV (18)
21	BRCA2	7470A→G	14	S2414S	1	ND	P (10)	0.250
22	BRCA2	7547A→G	14	H2440R	2	2	UV (79)
23	BRCA2	9058A→T	22	I2944F	3	1	UV (115)	0.006
24	BRCA2	9862G→C	26	G3212R	2	2	UV* (8)

25	BRCA2	3034/6 delACAA	11	958X	1	ND	trunc (63)

Intronic variations
26	BRCA2	ex2-11C→T		–	4	ND	1st report (0)
27	BRCA2	ex7-19C→T		–	2	ND	UV (10)
28	BRCA2	ex11-43T→C		–	2	ND	1st report (0)
29	BRCA2	ex12-200insC		–	1	ND	1st report (0)
30	BRCA2	ex17-40A→G		–	3	ND	1st report (0)
31	BRCA2	ex18+109G→A		–	2	0	1st report (0)
32	BRCA2	ex21-36C→G		–	1	ND	1st report (0)
33	BRCA2	ex22-70C→T		–	2	ND	1st report (0)
34	BRCA2	ex26+106delT		–	2	ND	P (1)