Table 6 Assessment of the clinical effect of unclassified BRCA1/2 missense variants detected in Bulgarian BC patients

5

c.139 T > G

C47G

unknown

-

probably damaging

damaging

neutral

8

c.536A > G

Y179C

unknown

neutral

damaging

tolerated

neutral

11

c.736 T > G

L246V

unknown

neutral

probably damaging

tolerated

neutral

11

c. 1067A > G

Q356R

unknown

neutral

probably damaging

damaging

deleterious

11

c.1456 T > C

F486L

unknown

neutral

benign

tolerated

neutral

11

c.1648A > C

N550H

unknown

neutral

probably damaging

damaging

deleterious

11

c.2077G > A

D693H

no

neutral

benign

tolerated

deleterious

11

c.2612C > T

P871L

no

neutral

benign

tolerated

neutral

11

c.3113A > G

E1038G

no

neutral

possibly damaging

damaging

neutral

11

c.3119G > A

S1040N

unknown

neutral

probably damaging

damaging

neutral

11

c.3548A > G

K1183R

no

neutral

benign

tolerated

neutral

11

c. 3999 T > C

V1333A

-

-

possibly damaging

tolerated

neutral

16

c.4837A > G

S1613C

no

neutral

benign

damaging

neutral

16

c.4956G > A

M1652I

unknown

neutral

benign

tolerated

neutral

10

c.865A > C

N289H

no

neutral

benign

tolerated

neutral

10

c.978C > A

S326R

no

neutral

benign

tolerated

neutral

10

c.1114A > C

H372N

no

neutral

benign

tolerated

neutral

11

c.2971A > G

N991D

no

polymorphism

benign

tolerated

neutral

11

c.3515C > T

S1172L

unknown

likely neutral

probably damaging

damaging

deleterious

11

c.5744C > T

T1915M

no

neutral

benign

tolerated

neutral

11

c.6100C > T

R2034C

unknown

neutral

probably damaging

tolerated

deleterious

11

c.6322C > T

R2108C

unknown

UV

benign

tolerated

neutral

15

c.7469 T > C

I2490T

no

UV

benign

tolerated

neutral

23

c.9104A > C

Y3035S

unknown

UV

benign

damaging

Neutral