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Table 4 List of the uncertain significant variants (VUS)

From: Novel and recurrent BRCA1/BRCA2 germline mutations in patients with breast/ovarian cancer: a series from the south of Tunisia

Variants Gene Exon AA change Clinical importance (BIC) Functional prediction
PolyPhen SIFT Mutation taster
c.293G > C BRCA1 5 G98A Unknown PD Del DC
c.397 C > T // 6 R 133C // PD Del DC
c.536A > G // 7 Y179C // PD Del DC
c.1067A > G // 11 Q356R // PD D Pol
c.1648A > C // 11 N550H NA PD D Pol
c.5117G > C // 17 G1706A // B Del DC
c.6100 C > T BRCA2 11 R2034C // PD D Pol
c.7397T > C // 14 V2466A No PD D Pol
c.7712A > G // 16 E2571G // PD D DC
c.9976A > T // 27 K3326* LB NA NA DC
  1. PD: Probably deleterious; D: deleterious; DC: disease causing; Pol: polymorphism; LB: Likely Benign; NA: not available