Table 1. Germline mutations identified in 31 African American high-risk breast cancer patients.

Gene ID	SNP Rs#	Nucleotide or	N	%	Mean age ± SD, years	Molecular consequences	ClinVar	Worst clinical significance (SIFT, PolyPhen)
		Amino acid change
BRCA1	55975699	Asp232Asn	1	3.23	36 ± na	missense	VUS	Possibly pathogenic
	397507258	Asn319Ser	1	3.23	44 ± na	missense	VUS	VUS
	373202012	c.441+52delC	2	6.45	30.5 ± 2.1	intron	Not found in ClinVar	VUS
	578250989	c.441+51T>C	16	51.61	37.1 ± 6.3	intron	Not found in ClinVar	VUS
	novel	c.441+54A>G	1	3.23	37 ± na	intron	VUS	VUS
BRCA2	80359304	Met591Ile	1	3.23	41 ± na	frameshift	Pathogenic	Pathogenic
	56328701	Asp596His	1	3.23	37 ± na	missense	VUS	Possibly pathogenic
	45469092	Arg2973Cys	1	3.23	32 ± na	missense	VUS	Possibly pathogenic
	206076	Val2171Val	31	100.0	37.9 ± 5.8	synonymous	VUS	VUS
	56014558	c.7007+53G>A	1	3.23	43 ± na	intron	Not found in ClinVar	VUS
	76584943	c.7008-62A>G	1	3.23	32 ± na	intron	VUS	VUS

VUS, variant of unknown significance.