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Table 2 Variants of uncertain significance (VUSs)

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

Variant No. of families carrying VUS Co-occurrence with pathogenic mutation Gene BIC In silico analysis IARC-LOVD database
Polyphen-2 SIFT Align GVGD
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  
  1. 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).