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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