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Table 6 BRCA1 and BRCA2 germline UVs in 133 Chinese women with familial breast/ovarian cancer

From: Novel germline mutations and unclassified variants of BRCA1 and BRCA2 genes in Chinese women with familial breast/ovarian cancer

Gene

No. of patient

Exon

Systematic nomenclature

BIC nomenclature

Amino acid change

References

Align-GVGD

SIFT

PROVEAN

PolyPhen-2

PMUT

PANTHER

BRCA1

1

11

c.1679A > T

1798A > T

D560V

Novel

C0

Damaging

Deleterious

Possibly damaging

Neutral

Deleterious

1

11

c.1537C > G

1656C > G

H513D

novel

C0

Tolerated

Deleterious

Benign

Pathological

Neutral

1

11

c.2286A > T

2405A > T

R762S

BIC

C0

Damaging

Deleterious

Benign

Pathological

Neutral

1

14

c.4445A > C

4564A > C

D1482A

novel

C0

Damaging

Neutral

Benign

Pathological

Neutral

1

11

c.1966A > T

2085A > T

N656Y

novel

C0

Damaging

Deleterious

Possibly damaging

Neutral

Deleterious

1

11

c.2340G > T

2459G > T

Q780H

novel

C0

Damaging

Deleterious

Probably damaging

Neutral

Deleterious

1

11

c.2726A > T

2845A > T

N909I

BIC, Thirthagiri et al. [8]

C0

Damaging

Deleterious

Possibly damaging

Neutral

Neutral

BRCA2

1

10

c.1568A > G

1796A > G

H523R

novel

C0

Damaging

Neutral

Benign

Pathological

Neutral

1

11

c.3904A > G

4132A > G

T1302A

novel

C0

Tolerated

Deleterious

Benign

Neutral

Neutral

1

11

c.5590G > A

5818G > A

D1864N

novel

C0

Damaging

Neutral

Benign

Neutral

Neutral

1

11

c.6763A > T

6991A > T

T2255S

novel

C0

Damaging

Neutral

Possibly damaging

Neutral

Deleterious