Table 3.

Frequency of pathogenic variants of BRCA1 and BRCA2 genes in patients

Gene	Exon/intron	BIC nomenclature	HGVS cDNA	HGVS protein	N
BRCA1	IVS5	IVS5+1G>A	c.212+1G>A	–	1
	7	509C>A	c.390C>A	p.Tyr130*	3
	11	1041_1042delAG	c.922_923delAG	p.Ser308Glufs*	1
	11		c.922_924delAGCinsT	p.Ser308*	1
	11	1137delG	c.1018delG	p.Val340Glyfs*	1
	11	1599C>T	c.1480C>T	p.Gln494*	1
	11		c.14923_1494delTC	p.Leu498Hisfs*	1
	11	1630dupG	c.1511dupG	p.Lys505*	1
	11		c.1516delA	p.Arg506Glysfs*	2
	11		c.2354T>A	p.Leu785*	1
	11	3415delC	c.3296delC	p.Pro1099Leufs*	1
	11	3746dupA	c.3627dupA	p.Leu1210Glufs*	1
	11	3819del5	c.3700_3704delGTAAA	p.Val1210Aspfs*	1
			c.4110C>T	p.Glu1331*	1
	16	5100G>T	c.4981G>T	p.Glu1661*	2
	20	5379G>T	c.5260G>T	p.Glu1754*	2
	IVS21		c.5332+4delA	–	1
	23		c.5445G>A	p.Trp1815*	2
	IVS23	IVS23+1G	c.5467+1G>A	–	1
	24	5602delG	c.5483delG	p.Cys1828Leufs*	1
	24	5615del11insA	c.5496_5506delGGTGACCCGAGinsA	p.Val1833Serfs*	1
	1–14	Exon 1–14 deletion			1
	5–8	Exon 5–8 deletion			1
	22–24	Exon 22–24 deletion			1
BRCA2	7	173G>T	c.518G>T	p.Gly173Val	1
	9	983del4	c.755_758delACAG	p.Asp252Serfs*	2
	10	1222delA	c.994delA	p.Ile332Phefs*	1
	10	1627A>T	c.1399A>T	p.Lys467*	4
	11	3026delCA	c.2798_2799delCA	p.Thr933Argfs*	1
	11		c.3096_3110delAGATATTGAAGAAC	p.Asp1033Ilefs*	1
	11	3972del4	c.3744_3747delTGAC	p.Ser1248Glufs*	3
	11	6019C>T	c.5791C>T	p.Gln1931*	1
	11	6781delG	c.6553delG	p.Ala2185Leufs*	1
	14		c.7258G>T	p.Glu2420*	2
	15	7708C>T	c.7480C>T	p.Arg2494*	9
	15		c.7486G>T	p.Glu2420*	1
	18		c.8300_8301insAC	p.Pro2767Hisfs*	1
	22	9179C>G	c.8951C>G	p.Ser2984*	1
	23	9304C>T	c.9076C>T	p.Gln3026*	1
	24		c.9253delA	p.Thr3085Glnfs*	1
	25	9503del2	c.9275_9276delAT	p.Tyr3092Phefs*	1
	25	9641T>G	c.9413T>G	p.Leu3138*	1