Table 2.

List of BRCA1/2 genes variants.

No.	HGVS cDNA	HGVS Protein	Local	BCCR/ OCCR	Domain /Binding	Type	Sign.	Ref.
01	c.1016delA	p.Lys339ArgfsTer2	BRCA1-Exon 11	−	−	F	P	[13]
02	c.1621C > T	p.Gln541Ter	BRCA1-Exon 11	OCCR1	−	N	P	[14]
03	c.2760_2763delACAG	p.Thr922LeufsTer77	BRCA1-Exon 11	OCCR3	−	F	P	[15]
04	c.4986 + 4A > T	IVS16+4A > T	BRCA1-Intron 16	BCCR23	BRCT/BACH1	Ss	P	[16]
05	c.4997dupA	p.Tyr1666Ter	BRCA1-Exon 17	BCCR23	BRCT/BACH1	N	P	CS
06	c.5068A > C	p.Lys1690Gln	BRCA1-Exon 17	BCCR23	BRCT/BACH1	M	VUS	[17]
07	c.5251C > T	p.Arg1751Ter	BRCA1-Exon 20	−	−	N	P	[18]
08	c.5335delC	p.Gln1779AsnfsTer14	BRCA1-Exon 22	BCCR23	BRCT/BACH1	F	P	[19]
09	c.4022delC	p.Ser1341Ter	BRCA2-Exon 11	OCCR1	−	N	P	CS
10	c.4478_4481delAAAG	p.Glu1493ValfsTer10	BRCA2-Exon 11	OCCR1	−	F	P	[20]
11	c.5453C > A	p.Ser1818Ter	BRCA2-Exon 11	OCCR1	−	N	P	[21]

OCCR: ovarian cancer cluster region; BCCR: breast cancer cluster region; F: frameshift; N: nonsense; M: missense; Ss: splice site; (−): absent; P: pathogenic; VUS: variant uncertain significance; CS: current study.