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Table 2 Deleterious variants identified in 123 bilateral breast cancer patients of this study

From: Clinical application of artificial neural network (ANN) modeling to predict BRCA1/2 germline deleterious variants in Chinese bilateral primary breast cancer patients

Gene

Location

dbSNP Id

HGVS.c

HGVS.p

Consequence Type

Variation ID

Significance

No. of observations

BRCA1

Intron 4

rs80358163

c.213-12 A > G

/

Intron Variant

37,450

Pathogenic

1

BRCA1

Exon 6

rs886040119

c.335del

p.Asn112Ilefs*7

Frameshift

266,359

Pathogenic

1

BRCA1

Exon 7

rs1567806048

c.520 C > T

p.Gln174*

Nonsense

575,899

Pathogenic

1

BRCA1

Exon 10

rs80357814

c.2110_2111del

p.Asn704Cysfs*7

Frameshift

54,462

Pathogenic

1

BRCA1

Exon 16

rs80357034

c.5072 C > A

p.Thr1691Lys

Missense

37,627

Likely Pathogenic

2

BRCA1

Exon 23

rs80357973

c.5470_5477del

p.Ile1824Aspfs

Frameshift & splice acceptor variant

55,591

Pathogenic

1

BRCA1

Exon 23

Novel

c.5485del

p.Glu1829Argfs*5

Frameshift

/

Pathogenic

1

BRCA2

Exon 9

rs80359670

c.767_768del

p.Thr256Lysfs*19

Frameshift

52,382

Pathogenic

1

BRCA2

Exon 9

rs75096777

c.774_775del

p.Glu260Serfs*15

Frameshift

188,425

Pathogenic

1

BRCA2

Exon 11

rs276174819

c.2175del

p.Val726Phefs*4

Frameshift

926,187

Pathogenic

1

BRCA2

Exon 11

rs80359351

c.2808_2811del

p.Ala938Profs*21

Frameshift

9,322

Pathogenic

1

BRCA2

Exon 11

rs80358638

c.3922G > T

p.Glu1308*

Nonsense

37,867

Pathogenic

1

BRCA2

Exon 11

rs80359430

c.4133_4136del

p.Thr1378Argfs*

Frameshift

51,602

Likely Pathogenic

1

BRCA2

Exon 11

rs80359594

c.6448dup

p.Val2151Serfs*25

Frameshift

52,107

Pathogenic

1

BRCA2

Exon 19

/

c.8399_8400insA

p.Pro2802Serfs*10

Frameshift

/

Pathogenic

1

BRCA2

Exon 22

rs397508019

c.8915del

p.Leu2972Cysfs*4

Frameshift

52,701

Pathogenic

1

BRCA2

Exon 23

/

c.9037del

p.Thr3013Leufs*15

Frameshift

1,454,156

Pathogenic

1

BRCA2

Exon 23

rs397507419

c.9097dup

p.Thr3033Asnfs*11

Frameshift

38,208

Pathogenic

2