Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients

Table 2 Variants of uncertain significance (VUSs)

Variant	No. of families carrying VUS	Co-occurrence with pathogenic mutation	Gene	BIC	In silico analysis			IARC-LOVD database
Variant	No. of families carrying VUS	Co-occurrence with pathogenic mutation	Gene	BIC	Polyphen-2	SIFT	Align GVGD	IARC-LOVD database
p.I1237M	1	No	BRCA1	Unknown	Benign	Tolerated	C0	-
p.S1448G	1	No	BRCA1	Unknown	Benign	Affect	C0	-
p.A1615T	1	No	BRCA1	Unknown	Possibly	Affect	C0	-
p.M1783T	1	No	BRCA1	Unknown	Probably	Affect	C55	-
p.K322Q	1	No	BRCA2	Unknown	Benign	Affect	C0	-
p.L366V	1	No	BRCA2	Novel	Benign	Tolerated	C0	-
p.A495T	1	No	BRCA2	Novel	Benign	Tolerated	C0	-
p.M784V	4	No	BRCA2	Unknown	Benign	Tolerated	C0	Class 3
p.K1533N	1	No	BRCA2	Unknown	Benign	Tolerated	C0	-
p.H1561N	1	Yes	BRCA2	Unknown	Benign	Tolerated	C0	-
p.M1915T	3	No	BRCA2	Unknown	Benign	Tolerated	C0	-
p.G2044V	1	Yes	BRCA2	Unknown	Benign	Tolerated	C0	-
p.V2138F	2	Yes	BRCA2	Unknown	Benign	Tolerated	C0	-
p.I2490T	3	Yes	BRCA2	Unknown	Benign	Tolerated	C45	-
p.I2944F	2	Yes	BRCA2	Unknown	Probably	Affect	C0	-
p.A3029T	1	No	BRCA2	Unknown	Benign	Tolerated	C0	-
p.I3412V	1	Yes	BRCA2	Unknown	Benign	Tolerated	C0

Align GVGD: C0 (Less likely to interfere in protein function), C15, C25, C35, C45, C55, C65 (More likely to interfere in protein function); Polyphen: Variant Benign, Possibly damaging and Probably damaging; SIFT: Variant Tolerated (benign) or Affect protein function. LOVD-IARC: class 1 (Not pathogenic or of no clinical significance), class 2 (Likely not pathogenic or of little clinical), class 3 (Uncertain), class 4 (Likely pathogenic), class 5 (definitely pathogenic).

ISSN: 1471-2350