Table 2a.

MAF of BRCA1 sequence VUS^a, identified in women with CBC or UBC.

Typeb	MAF	CBC	UBC	Relative Risk (95% CI) c,d
Missense
53 unique variants	<0.1%	21	46	1.0 (0.6–1.7)
4 unique variants	0.1–0.5%	9	35	0.6 (0.3–1.2)
2 unique variants	0.5–2.5%	42	81	1.1 (0.8–1.7)
Q356R	6.0%	65	165	0.8 (0.6–1.2)
D693N	7.1%	87	180	1.1 (0.8–1.4)
E1038G	25%	271	646	0.9 (0.7–1.0)
K1183R	26%	272	642	0.9 (0.7–1.1)
P871L	26%	278	668	0.8 (0.7–1.0)
S1613G	29%	291	693	0.8 (0.7–1.0)
Synonymous
13 unique variants	<0.1%	4	15	0.6 (0.2–1.7)
2 unique variants	0.1–0.5%	2	9	0.5 (0.1–2.2)
no variant	0.5–2.5%	-	-	-
L771L	25%	268	640	0.8 (0.7–1.0)
S1436S	26%	269	653	0.8 (0.7–1.0)
S694S	28%	278	676	0.8 (0.7–1.0)
IVS
32 unique variants	<0.1%	11	21	1.4 (0.6–3.0)
4 unique variants	0.1–0.5%	10	19	1.2 (0.6–2.7)
no variant	0.5–2.5%	-	-	-
IVS17−53C>T	2.7%	24	77	0.7 (0.4–1.1)
IVS7−34C>T	19%	222	495	1.0 (0.8–1.2)
IVS8−58delT	28%	285	672	0.9 (0.7–1.1)
IVS7+36del14	33%	314	745	0.8 (0.7–1.0)

^aIndividuals with rare variants are aggregated within MAF categories. Common variants (MAF>2.5%) are listed separately. Frequencies correspond to combined frequencies of heterozygotes or homozygote variants.

^bIn addition to the variant types listed, 2 women with CBC and 7 women with UBC had rare variants that were either in-frame deletions or variants in the untranslated regions. BRCA1 (GenBank U14680.1) mutation nomenclature according to BIC. IVS=intervening sequence (noncoding). Mutation nomenclature according to HGVS is found in Supp. Table S1.

^c95% confidence interval.

^dThe reference group for each RR consists of women carrying all other types of VUSs and excludes carriers of known deleterious BRCA mutations.