Table 3.

Frequency of BRCA1 and BRCA2 mutations.

Gene	Exon/intron	Nucleotide change	Amino acid change	Variant type	dbSNP rs	Clinical significance	Database report	Frequency (n)
BRCA1	Exon 2	c.66dup	p.Glu23Arg	Duplication/fs	rs80357783	Pathogenic	Yes	5
BRCA1	Exon 12	c.4117G > T	p.Glu1373Ter	Nonsense	rs80357259	Pathogenic	Yes	3
BRCA1	Intron 17	c.5074 + 3A > G	Splice acceptor	Intervening sequence	rs80358181	Likely pathogenic	Yes	3
BRCA1	Exon 11	c.4065_4068del	p.Asn1355Lys	Deletion/fs	rs80357508	Pathogenic	Yes	2
BRCA1	Exon 18	c.5123C > A	p.Ala1708Glu	Missense	rs28897696	Pathogenic	Yes	2
BRCA1	Exon 3	c.121C > T	p.His41Tyr	Missense	rs1060502353	Likely pathogenic	Yes	2
BRCA2	Exon 11	c.2254_2257 del	p.Asp752Phefs	Deletion/fs	rs80359326	Pathogenic	Yes	8
BRCA2	Exon 11/Exon 11	c.2254_2257 del & c.5351 dup	p.Asp752Phefs and p.Asn1784Lysfs	Deletion/fs-Duplication/fs	rs80359326 & rs80359508	Pathogenic	Yes	6
BRCA2	Exons 5-11	Partial duplication (exons 5-11)	Absent or disrupted protein product	Large duplication	—	Pathogenic	Yes	5
BRCA2	Exon 10	c.1233dup	p.Pro412Thr	Duplication/fs	rs80359270	Pathogenic	Yes	3
BRCA2	Exon 11	c.6685G > T	p.Glu2229Ter	Nonsense	rs730881548	Pathogenic	Yes	3
BRCA2	Exon 11	c.6486_6489del	p.Lys2162Asn	Deletion/fs	rs80359598	Pathogenic	Yes	2
BRCA2	Intron 24	c.9257-1G > A	Splice acceptor	Intervening sequence	rs81002889	Likely pathogenic	Yes	2