Table 4.

Types of BRCA2 mutations.

Gene	Exon/intron	Nucleotide change	Amino acid change	Variant type	Database report	Frequency
BRCA 2	Exons 5–11	exon 5–11 duplication	Absent or disrupted protein product	Large duplication	Yes	8
BRCA 2	Exon 8	c.658_659del	p.Val220Ilefs	Deletion/fs	Yes	1
BRCA 2	Exon 10	c.1233dup	Pro412Thrfs	Duplication/fs	Yes	5
BRCA 2	Exon 10	c.1013del	p.Ala338Metfs	Deletion/fs	No	1
BRCA 2	Exon 11	c.2254_2257del	p.Asp752Phefs	Deletion/fs	Yes	11
BRCA 2	Exon11/ Exon11	c.2254_2257del & c.5351dup	p.Asp752Phefs & p.Asn1784Lysfs	Deletion/fs-Duplication/fs	No	5
BRCA 2	Exon 11	c.6685G > T	p.Glu2229Ter	Nonsense	Yes	3
BRCA 2	Exon 11	c.6486_6489del	p.Lys2162Asnfs	Deletion/fs	Yes	2
BRCA 2	Exon 11	c.4222_4223del	p.Gln1408Argfs	Deletion/fs	No	2
BRCA 2	Exon 11	c.6627_6634del	p.Ile2209Metfs	Deletion/fs	Yes	2
BRCA 2	Exon 11	c.2677C > T	p.Gln893Ter	Nonsense	Yes	1
BRCA 2	Exon 11	c.6193C > T	p.Gln2065Ter	Nonsense	No	1
BRCA 2	Exon 11	c.2808_2811del	p.Ala938Profs	Deletion/fs	Yes	1
BRCA 2	Exon 11	c.4936_4939del	p.Glu164Gln6fs	Deletion/fs	Yes	1
BRCA 2	Exon 11	c.5722_5723del	p.Leu1908Argfs	Deletion/fs	Yes	1
BRCA 2	Exon 11	c.6445_6446del	p.Ile2149Ter	Deletion/fs	Yes	1
BRCA 2	Exon 11	c.6022A > T	p.Lys2008Ter	Missense	Yes	1
BRCA 2	Exon 13	c.7007G > A	p.Arg2336His	Missense	Yes	1
BRCA 2	Exon 18	c.8140C > T	p.Gln2714Ter	Nonsense	Yes	1
BRCA 2	Exon 22	c.8878C > T	p.Gln2960Ter	Nonsense	Yes	2
BRCA 2	Exon 22	c.8760 T > G	p.Tyr2920Ter	Nonsense	Yes	1
BRCA 2	Intron 24	c.9257-1G > A/ IVS24-1G > A	Splice acceptor	Intervening sequence	Yes	3