Table 2.

Deleterious variants identified in 123 bilateral breast cancer patients of this study

Gene	Location	dbSNP Id	HGVS.c	HGVS.p	Consequence Type	Variation ID	Significance	No. of observations
BRCA1	Intron 4	rs80358163	c.213-12 A > G	/	Intron Variant	37,450	Pathogenic	1
BRCA1	Exon 6	rs886040119	c.335del	p.Asn112Ilefs*7	Frameshift	266,359	Pathogenic	1
BRCA1	Exon 7	rs1567806048	c.520 C > T	p.Gln174*	Nonsense	575,899	Pathogenic	1
BRCA1	Exon 10	rs80357814	c.2110_2111del	p.Asn704Cysfs*7	Frameshift	54,462	Pathogenic	1
BRCA1	Exon 16	rs80357034	c.5072 C > A	p.Thr1691Lys	Missense	37,627	Likely Pathogenic	2
BRCA1	Exon 23	rs80357973	c.5470_5477del	p.Ile1824Aspfs	Frameshift & splice acceptor variant	55,591	Pathogenic	1
BRCA1	Exon 23	Novel	c.5485del	p.Glu1829Argfs*5	Frameshift	/	Pathogenic	1
BRCA2	Exon 9	rs80359670	c.767_768del	p.Thr256Lysfs*19	Frameshift	52,382	Pathogenic	1
BRCA2	Exon 9	rs75096777	c.774_775del	p.Glu260Serfs*15	Frameshift	188,425	Pathogenic	1
BRCA2	Exon 11	rs276174819	c.2175del	p.Val726Phefs*4	Frameshift	926,187	Pathogenic	1
BRCA2	Exon 11	rs80359351	c.2808_2811del	p.Ala938Profs*21	Frameshift	9,322	Pathogenic	1
BRCA2	Exon 11	rs80358638	c.3922G > T	p.Glu1308*	Nonsense	37,867	Pathogenic	1
BRCA2	Exon 11	rs80359430	c.4133_4136del	p.Thr1378Argfs*	Frameshift	51,602	Likely Pathogenic	1
BRCA2	Exon 11	rs80359594	c.6448dup	p.Val2151Serfs*25	Frameshift	52,107	Pathogenic	1
BRCA2	Exon 19	/	c.8399_8400insA	p.Pro2802Serfs*10	Frameshift	/	Pathogenic	1
BRCA2	Exon 22	rs397508019	c.8915del	p.Leu2972Cysfs*4	Frameshift	52,701	Pathogenic	1
BRCA2	Exon 23	/	c.9037del	p.Thr3013Leufs*15	Frameshift	1,454,156	Pathogenic	1
BRCA2	Exon 23	rs397507419	c.9097dup	p.Thr3033Asnfs*11	Frameshift	38,208	Pathogenic	2