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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