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Table 3 Fifty-two unique germline and somatic BAP1 mutations identified in 54 UM

From: Comparison of Germline versus Somatic BAP1 Mutations for Risk of Metastasis in Uveal Melanoma

ID

BAP1 mutation

Metastases

chr 3

DNA change

Protein change

Predictred effect

Predicted pathogenic effecta

Previously reported mutations in UM

UM_44

germline

yes

monosomy

exon 1

c.3G>A

p.Met1Ile

misense: start site lost

LP

[36]

UM_76

somatic

yes

monosomy

intron 1

c.38-1G>C

p.?

splicing

P

[36]

UM_9

somatic

yes

monosomy

exon 2

c.40_52del13

p.Leu14SerfsTer54

truncating

P

[36]

UM_1136

germline

no

monosomy

exon 2

c.58_59insTG

p.Glu20ValfsTer53

truncating

P

 

UM_113

somatic

yes

monosomy

intron 2

c.67+1G>A

p.?

splicing

P

[27, 36]

UM_1123

somatic

yes

monosomy

intron 2

c.67+2dupT

p.?

splicing

P

 

UM_1080

somatic

no

monosomy

intron 2/exon 3

c.68-12_75del20

p.?

splicing

P

 

UM_802

somatic

yes

monosomy

intron 2/exon 3

c.68-16_69del18

p.?

splicing

P

[36]

UM_584

germline

no

monosomy

exon 3

c.79delG

p.Val27CysfsTer45

truncating

P

 

UM_17

somatic

yes

monosomy

exon 3

c.82C>T

p.Gln28Ter

truncating

P

[36]

UM_1207

somatic

no

monosomy

exon 3

c.91_93delGAG

p.Glu31del

in-frame deletion

LP

 

UM_1133

germline

no

disomyb

intron 3

c.122+1G>C

p.?

splicing

P

 

UM_109

germline

yes

monosomy

intron 3

c.122+1G>T

p.?

splicing

P

[36]

UM_75

somatic

no

monosomy

exon 4

c.125_145del21

p.Pro42_Phe48del

in-frame deletion

LP

[36]

UM_88

somatic

yes

monosomy

exon 4

c.145delC

p.Leu49CysfsTer23

truncating

P

[36]

UM_877

somatic

yes

monosomy

exon 4

c.165_180del16

p.Arg57SerfsTer10

truncating

P

 

UM_13

somatic

yes

disomyb

exon 4

c.178C>T

p.Arg60Ter

truncating

P

[36, 45]

UM_62

somatic

yes

monosomy

exon 4

c.202_227del26

p.Asp68CysfsTer3

truncating

P

[36]

UM_780

somatic

yes

monosomy

exon 4/intron 4

c.234del96

p.?

splicing

P

 

UM_119

somatic

yes

monosomy

exon 4

c.253C>T

p.Gln85Ter

truncating

P

[36]

UM_106

somatic

yes

monosomy

exon 4

c.254A>C

p.Gln85Pro

missense

P

[36]

UM_1126

somatic

no

monosomy

exon 5

c.295_312del18

p.Val99_Ser104del

in-frame deletion

LP

 

UM_1046

somatic

no

monosomy

exon5/intron5

c.370_375+12del18

p.?

splicing

P

 

UM_1208

somatic

yes

monosomy

intron 5/exon 6

c.376-20_383del28

p.?

splicing

P

 

UM_56

somatic

yes

monosomy

exon 6

c.422A>G

p.His141Arg

missense

LP

[36, 46]

UM_23

germline

yes

monosomy

intron 6

c.438-2A>G

p.?

splicing

P

[36]

UM_11

somatic

no

disomyb

intron 6

c.438-2A>G

p.?

splicing

P

 

UM_27

somatic

yes

monosomy

intron 6

c.438-2A>G

p.?

splicing

P

 

UM_58

germline

no

monosomy

exon 7

c.458_459delCT

p.Pro153ArgfsTer7

truncating

P

[9, 36]

UM_114

somatic

yes

monosomy

exon 7

c.497_509del13

p.Glu166ValfsTer17

truncating

P

[36]

UM_51

somatic

no

monosomy

exon 7

c.506A>C

p.His169Pro

missense

P

[36]

UM_1118

somatic

no

monosomy

exon 7

c.524C>G

p.Pro175Arg

missense

LP

[27]

UM_1086

somatic

yes

monosomy

intron 7/exon 8

c.581-2_591del13

p.?

splicing

P

 

UM_60

somatic

yes

monosomy

exon 8

c.588G>A

p.Trp196Ter

truncating

P

[23, 47]

UM_1334

germline

no

mosaic

exon 8

c.619delC

p.Arg207GlyfsTer24

truncating

P

 

UM_105

somatic

yes

monosomy

intron 8

c.659+1G>A

p.?

splicing

P

[27, 36]

UM_35

somatic

yes

monosomy

exon 9

c.723T>A

p.Tyr241Ter

truncating

P

[36, 48:c.723T>C]

UM_107

somatic

yes

monosomy

exon 9

c.781C>T

p.Gln261Ter

truncating

P

[36, 49] rs772448753c

UM_46

somatic

yes

monosomy

exon 10

c.904_905insT

p.Pro302LeufsTer5

truncating

P

[36]

UM_1029

somatic

yes

monosomy

exon 12

c.1134_1143del10_insAA

p.Ala379ArgfsTer16

truncating

P

 

UM_115

somatic

yes

monosomy

exon 12

c.1153C>T

p.Arg385Ter

truncating

P

[32, 36, 44, 50]

UM_55

somatic

no

monosomy

exon 12

c.1175_1182delAGCAGTAC

p.Gln392LeufsTer3

truncating

P

[36]

UM_863

somatic

no

monosomy

exon 12

c.1192G>T

p.Glu398Ter

truncating

P

 

UM_950

germline

yes

mosaic

exon 12

c.1203dupT

p.Glu402Ter

truncating

P

 

UM_69

somatic

yes

monosomy

exon 12

c.1217_1220delAGGA

p.Glu406ValfsTer23

truncating

P

[36]

UM_1333

germline

no

mosaic

exon 13

c.1695dupT

p.Glu566Ter

truncating

P

 

UM_48

somatic

no

monosomy

exon 13

c.1729G>C

p.Glu577Gln

missense

P

[36]

UM_61

somatic

yes

monosomy

exon 14

c.1881C>G

p.Tyr627Ter

truncating

P

[36]

UM_74

germline

no

monosomy

exon 14

c.1882_1885delTCAC

p.Ser628ProfsTer8

truncating

P

[29, 36, 51]

UM_708

somatic

no

disomyb

intron 14-3'UTR

c.1890+38_2573del

p.Glu631Ter

truncating (3 exon deletion)

P

 

UM_1113

somatic

yes

monosomy

exon 15

c.1926_1951del 26

p.Ile643GlyfsTer12

truncating

P

 

UM_104

somatic

yes

monosomy

exon 15

c.1932_1948deldel17

p.Asn645GlnfsTer13

truncating

P

[36]

UM_804

somatic

yes

monosomy

exon 16

c.1986_1989delTGAT

p.Ile662MetfsTer29

truncating

P

[36]

UM_108

somatic

yes

monosomy

exon 16

c.2015A>G

p.Asp672Gly

missense

LP

[23, 36]

  1. aPredicted pathogenic effect based on ACMG guidelines [39] P, pathogenic; LP, likely pathogenic
  2. bindicates UM with chromosome 3 disomy and carrying a germline or somatic BAP1 mutation
  3. **Population frequency rs772448753: 8.2E-06
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BMC Cancer

ISSN: 1471-2407

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