Unique variants in the MAGEC1 gene

Information The variants shown are described using the NM_005462.4 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.2T>C r.(?) p.(Met1?) - likely benign g.140992860T>C g.141905074T>C MAGEC1(NM_005462.4):c.2T>C (p.(Met1?)) - MAGEC1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.39T>G r.(?) p.(Ser13Arg) - likely benign g.140993229T>G - MAGEC1(NM_005462.5):c.39T>G (p.S13R) - MAGEC1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.74G>A r.(?) p.(Cys25Tyr) - VUS g.140993264G>A g.141905478G>A - - MAGEC1_000056 recurrent, found 29 times PubMed: Tarpey 2009 - - Germline - 29/208 cases - - - Lucy Raymond
-?/. 1 - c.267C>T r.(=) p.(=) - likely benign g.140993457C>T g.141905671C>T G89G - MAGEC1_000057 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.341T>G r.(?) p.(Ile114Ser) - likely benign g.140993531T>G g.141905745T>G MAGEC1(NM_005462.4):c.341T>G (p.(Ile114Ser)) - MAGEC1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.395C>T r.(?) p.(Ala132Val) - likely benign, VUS g.140993585C>T g.141905799C>T MAGEC1(NM_005462.4):c.395C>T (p.A132V, p.(Ala132Val)) - MAGEC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.414T>C r.(?) p.(Ser138=) - likely benign g.140993604T>C - MAGEC1(NM_005462.4):c.414T>C (p.S138=) - MAGEC1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.561A>C r.(?) p.(Gln187His) - VUS g.140993751A>C g.141905965A>C MAGEC1(NM_005462.4):c.561A>C (p.(Gln187His)) - MAGEC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.610C>T r.(?) p.(Arg204Cys) - likely benign g.140993800C>T g.141906014C>T MAGEC1(NM_005462.4):c.610C>T (p.R204C) - MAGEC1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.611G>C r.(?) p.(Arg204Pro) - likely benign g.140993801G>C g.141906015G>C MAGEC1(NM_005462.4):c.611G>C (p.R204P) - MAGEC1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.631T>G r.(?) p.(Leu211Val) - VUS g.140993821T>G g.141906035T>G - - MAGEC1_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.631_840del r.(?) p.(Leu211_Leu280del) - VUS g.140993821_140994030del g.141906035_141906244del MAGEC1(NM_005462.4):c.612_821del (p.(Phe206_Ser275del)) - MAGEC1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.637A>C r.(?) p.(Ile213Leu) - VUS g.140993827A>C g.141906041A>C - - MAGEC1_000004 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.660A>T r.(?) p.(Arg220Ser) - likely benign g.140993850A>T - MAGEC1(NM_005462.4):c.660A>T (p.R220S) - MAGEC1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - 1 more item r.(?) 1 more item - VUS 1 more item 1 more item MAGEC1(NM_005462.4):c.591_592ins105 (p.(Pro197_Leu198ins105)) - MAGEC1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - 1 more item r.(?) 1 more item - VUS 1 more item 1 more item MAGEC1(NM_005462.4):c.637_638ins105 (p.(Ile213_Phe214ins105)) - MAGEC1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGTTTTCCAGAGTTCCCCTGAGAGAA r.(?) p.(Thr221SerfsTer24) - VUS g.140993851_140993852insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGTTTTCCAGAGTTCCCCTGAGAGAA g.141906065_141906066insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGTTTTCCAGAGTTCCCCTGAGAGAA 1 more item - MAGEC1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.666G>C r.(?) p.(Gln222His) - likely benign g.140993856G>C g.141906070G>C MAGEC1(NM_005462.4):c.666G>C (p.(Gln222His)) - MAGEC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.694C>G r.(?) p.(Pro232Ala) - VUS g.140993884C>G g.141906098C>G MAGEC1(NM_005462.4):c.694C>G (p.(Pro232Ala)) - MAGEC1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.694_798del r.(?) p.(Pro232_Ser266del) - VUS g.140993884_140993988del g.141906098_141906202del MAGEC1(NM_005462.4):c.653_757del (p.(Arg220_Glu254del)) - MAGEC1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.709G>A r.(?) p.(Val237Met) - VUS g.140993899G>A g.141906113G>A MAGEC1(NM_005462.4):c.709G>A (p.(Val237Met)) - MAGEC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.715C>G r.(?) p.(Pro239Ala) - VUS g.140993905C>G g.141906119C>G MAGEC1(NM_005462.4):c.715C>G (p.(Pro239Ala)) - MAGEC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.718T>G r.(?) p.(Ser240Ala) - VUS g.140993908T>G g.141906122T>G MAGEC1(NM_005462.4):c.718T>G (p.(Ser240Ala)) - MAGEC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - 1 more item r.(?) 1 more item - VUS 1 more item 1 more item 1 more item - MAGEC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.721_722insTCTCCTCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT r.(?) p.(Ser241PhefsTer4) - VUS g.140993911_140993912insTCTCCTCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT g.141906125_141906126insTCTCCTCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCT 1 more item - MAGEC1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.722_826del r.(?) p.(Ser241_Ser275del) - VUS g.140993912_140994016del g.141906126_141906230del MAGEC1(NM_005462.4):c.695_799del (p.(Ser241_Ser275del)) - MAGEC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG r.(?) p.(Phe252SerfsTer35) - VUS g.140993944_140993945insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG g.141906158_141906159insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG MAGEC1(NM_005462.4):c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAG (p.(Phe252SerfsTer35)) - MAGEC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.815T>G r.(?) p.(Val272Gly) - VUS g.140994005T>G g.141906219T>G MAGEC1(NM_005462.4):c.815T>G (p.(Val272Gly)) - MAGEC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.820_822del r.(?) p.(Pro274del) - likely benign g.140994010_140994012del g.141906224_141906226del MAGEC1(NM_005462.4):c.819_821del (p.(Pro274del)) - MAGEC1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.821C>G r.(?) p.(Pro274Arg) - VUS g.140994011C>G g.141906225C>G - - MAGEC1_000005 - - - - Germline - - - - - Yu Sun
?/. 1 - c.847_853del r.(?) p.(Leu283ArgfsTer23) - VUS g.140994037_140994043del g.141906251_141906257del MAGEC1(NM_005462.4):c.847_853del (p.(Leu283ArgfsTer23)) - MAGEC1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.855_952del r.(?) p.(Gln285HisfsTer7) - VUS g.140994045_140994142del g.141906259_141906356del MAGEC1(NM_005462.4):c.855_952del (p.(Gln285HisfsTer7)) - MAGEC1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.904C>T r.(?) p.(Pro302Ser) - likely benign g.140994094C>T g.141906308C>T MAGEC1(NM_005462.4):c.904C>T (p.(Pro302Ser)) - MAGEC1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.938C>A r.(?) p.(Ser313Tyr) - likely benign g.140994128C>A g.141906342C>A MAGEC1(NM_005462.4):c.938C>A (p.(Ser313Tyr)) - MAGEC1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.957C>A r.(?) p.(Phe319Leu) - VUS g.140994147C>A g.141906361C>A MAGEC1(NM_005462.4):c.957C>A (p.(Phe319Leu)) - MAGEC1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.965C>T r.(?) p.(Ser322Phe) - VUS g.140994155C>T g.141906369C>T MAGEC1(NM_005462.4):c.965C>T (p.S322F) - MAGEC1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.967C>T r.(?) p.(Pro323Ser) - likely benign g.140994157C>T g.141906371C>T MAGEC1(NM_005462.4):c.967C>T (p.(Pro323Ser)) - MAGEC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - 1 more item r.(?) 1 more item - VUS 1 more item 1 more item 1 more item - MAGEC1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.981_982del r.(?) p.(His327GlnfsTer4) - VUS g.140994171_140994172del g.141906385_141906386del MAGEC1(NM_005462.4):c.979_980del (p.(His327GlnfsTer4)) - MAGEC1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.984_1086del r.(?) p.(Ser328ArgfsTer25) - VUS g.140994174_140994276del g.141906388_141906490del MAGEC1(NM_005462.4):c.984_1086del (p.(Ser328ArgfsTer25)) - MAGEC1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1000C>G r.(?) p.(Pro334Ala) - VUS g.140994190C>G g.141906404C>G MAGEC1(NM_005462.4):c.1000C>G (p.(Pro334Ala)) - MAGEC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1024_1128del r.(?) p.(Met342_Pro376del) - VUS g.140994214_140994318del g.141906428_141906532del MAGEC1(NM_005462.4):c.1011_1115del (p.?) - MAGEC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1025T>G r.(?) p.(Met342Arg) - VUS g.140994215T>G g.141906429T>G MAGEC1(NM_005462.4):c.1025T>G (p.(Met342Arg)) - MAGEC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1053_1056del r.(?) p.(Ser352PhefsTer34) - likely benign g.140994243_140994246del g.141906457_141906460del MAGEC1(NM_005462.4):c.1053_1056delGAGT (p.S352Ffs*34) - MAGEC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1057A>C r.(?) p.(Ile353Leu) - likely benign g.140994247A>C g.141906461A>C MAGEC1(NM_005462.4):c.1057A>C (p.I353L) - MAGEC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1080T>A r.(?) p.(Ser360Arg) - VUS g.140994270T>A g.141906484T>A MAGEC1(NM_005462.4):c.1080T>A (p.(Ser360Arg)) - MAGEC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1081G>A r.(?) p.(Ala361Thr) - VUS g.140994271G>A g.141906485G>A MAGEC1(NM_005462.4):c.1081G>A (p.(Ala361Thr)) - MAGEC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1105C>G r.(?) p.(Pro369Ala) - likely benign g.140994295C>G g.141906509C>G MAGEC1(NM_005462.4):c.1105C>G (p.(Pro369Ala)) - MAGEC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 2 - c.1115C>T r.(?) p.(Pro372Leu) - likely benign, VUS g.140994305C>T g.141906519C>T MAGEC1(NM_005462.4):c.1115C>T (p.P372L, p.(Pro372Leu)) - MAGEC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.1130G>T r.(?) p.(Gly377Val) - likely benign g.140994320G>T g.141906534G>T MAGEC1(NM_005462.4):c.1130G>T (p.(Gly377Val)) - MAGEC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1136C>G r.(?) p.(Pro379Arg) - likely benign g.140994326C>G g.141906540C>G MAGEC1(NM_005462.4):c.1136C>G (p.P379R) - MAGEC1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1175C>T r.(?) p.(Ser392Phe) - likely benign g.140994365C>T g.141906579C>T MAGEC1(NM_005462.4):c.1175C>T (p.(Ser392Phe)) - MAGEC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1177C>T r.(?) p.(Pro393Ser) - likely benign g.140994367C>T g.141906581C>T MAGEC1(NM_005462.4):c.1177C>T (p.(Pro393Ser)) - MAGEC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1186A>G r.(?) p.(Thr396Ala) - likely benign g.140994376A>G g.141906590A>G MAGEC1(NM_005462.4):c.1186A>G (p.T396A) - MAGEC1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1196C>A r.(?) p.(Thr399Asn) - likely benign g.140994386C>A - MAGEC1(NM_005462.4):c.1196C>A (p.T399N) - MAGEC1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1210C>G r.(?) p.(Pro404Ala) - VUS g.140994400C>G g.141906614C>G MAGEC1(NM_005462.4):c.1210C>G (p.(Pro404Ala)) - MAGEC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1234A>G r.(?) p.(Met412Val) - VUS g.140994424A>G g.141906638A>G MAGEC1(NM_005462.4):c.1234A>G (p.(Met412Val)) - MAGEC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1234_1338del r.(?) p.(Met412_Pro446del) - VUS g.140994424_140994528del g.141906638_141906742del MAGEC1(NM_005462.4):c.1196_1300del (p.(Glu401_Phe435del)) - MAGEC1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1237A>C r.(?) p.(Thr413Pro) - VUS g.140994427A>C g.141906641A>C MAGEC1(NM_005462.4):c.1237A>C (p.(Thr413Pro)) - MAGEC1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1238C>G r.(?) p.(Thr413Ser) - VUS g.140994428C>G g.141906642C>G MAGEC1(NM_005462.4):c.1238C>G (p.(Thr413Ser)) - MAGEC1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1247T>C r.(?) p.(Phe416Ser) - VUS g.140994437T>C g.141906651T>C MAGEC1(NM_005462.4):c.1247T>C (p.(Phe416Ser)) - MAGEC1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1272A>C r.(?) p.(Leu424Phe) - likely benign g.140994462A>C g.141906676A>C MAGEC1(NM_005462.4):c.1272A>C (p.(Leu424Phe)) - MAGEC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1292C>A r.(?) p.(Ala431Asp) - VUS g.140994482C>A g.141906696C>A MAGEC1(NM_005462.4):c.1292C>A (p.(Ala431Asp)) - MAGEC1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1300G>A r.(?) p.(Ala434Thr) - likely benign g.140994490G>A g.141906704G>A MAGEC1(NM_005462.4):c.1300G>A (p.(Ala434Thr)) - MAGEC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1340T>G r.(?) p.(Val447Gly) - likely benign g.140994530T>G g.141906744T>G MAGEC1(NM_005462.4):c.1340T>G (p.(Val447Gly)) - MAGEC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1358A>C r.(?) p.(Tyr453Ser) - likely benign g.140994548A>C g.141906762A>C MAGEC1(NM_005462.4):c.1358A>C (p.(Tyr453Ser)) - MAGEC1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1444G>C r.(?) p.(Val482Leu) - VUS g.140994634G>C g.141906848G>C MAGEC1(NM_005462.4):c.1444G>C (p.(Val482Leu)) - MAGEC1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1445T>A r.(?) p.(Val482Glu) - VUS g.140994635T>A g.141906849T>A MAGEC1(NM_005462.4):c.1445T>A (p.(Val482Glu)) - MAGEC1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1521G>C r.(?) p.(Glu507Asp) - benign g.140994711G>C g.141906925G>C MAGEC1(NM_005462.4):c.1521G>C (p.E507D) - MAGEC1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1601C>G r.(?) p.(Pro534Arg) - likely benign g.140994791C>G - MAGEC1(NM_005462.4):c.1601C>G (p.P534R) - MAGEC1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1623C>G r.(?) p.(Asp541Glu) - likely benign g.140994813C>G g.141907027C>G MAGEC1(NM_005462.4):c.1623C>G (p.(Asp541Glu)) - MAGEC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1629G>A r.(=) p.(=) - likely benign g.140994819G>A g.141907033G>A L543L - MAGEC1_000058 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.1639T>C r.(?) p.(Tyr547His) - likely benign g.140994829T>C g.141907043T>C MAGEC1(NM_005462.4):c.1639T>C (p.Y547H) - MAGEC1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1666del r.(?) p.(Glu556ArgfsTer74) - VUS g.140994856del g.141907070del MAGEC1(NM_005462.4):c.1666delG (p.E556Rfs*74) - MAGEC1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.1697A>G r.(?) p.(Gln566Arg) - likely benign, VUS g.140994887A>G g.141907101A>G MAGEC1(NM_005462.4):c.1697A>G (p.(Gln566Arg)) - MAGEC1_000059 recurrent, found 6 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 6/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 1 - c.1947G>C r.(?) p.(Gln649His) - VUS g.140995137G>C g.141907351G>C MAGEC1(NM_005462.4):c.1947G>C (p.Q649H) - MAGEC1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2247C>T r.(?) p.(Ser749=) - likely benign g.140995437C>T - MAGEC1(NM_005462.4):c.2247C>T (p.S749=) - MAGEC1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2363C>T r.(?) p.(Ala788Val) - VUS g.140995553C>T g.141907767C>T MAGEC1(NM_005462.4):c.2363C>T (p.A788V) - MAGEC1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2458T>C r.(?) p.(Ser820Pro) - VUS g.140995648T>C g.141907862T>C MAGEC1(NM_005462.4):c.2458T>C (p.(Ser820Pro)) - MAGEC1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2486C>T r.(?) p.(Ser829Phe) - likely benign g.140995676C>T g.141907890C>T MAGEC1(NM_005462.4):c.2486C>T (p.S829F) - MAGEC1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2519C>T r.(?) p.(Ser840Leu) - likely benign g.140995709C>T g.141907923C>T MAGEC1(NM_005462.4):c.2519C>T (p.S840L) - MAGEC1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2522G>T r.(?) p.(Ser841Ile) - VUS g.140995712G>T g.141907926G>T - - MAGEC1_000060 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
-?/. 1 - c.2573T>C r.(?) p.(Phe858Ser) - likely benign g.140995763T>C g.141907977T>C MAGEC1(NM_005462.4):c.2573T>C (p.(Phe858Ser)) - MAGEC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2714C>T r.(?) p.(Thr905Ile) - likely benign g.140995904C>T g.141908118C>T MAGEC1(NM_005462.4):c.2714C>T (p.T905I) - MAGEC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.2749C>T r.(?) p.(Arg917Trp) - likely benign, VUS g.140995939C>T g.141908153C>T MAGEC1(NM_005462.4):c.2749C>T (p.(Arg917Trp)) - MAGEC1_000051 recurrent, found 5 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 5/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
-?/. 1 - c.2963dup r.(?) p.(Ser989GlufsTer2) - likely benign g.140996153dup g.141908367dup MAGEC1(NM_005462.4):c.2962_2963insT (p.(Ser989GlufsTer2)) - MAGEC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3024C>T r.(?) p.(Phe1008=) - likely benign g.140996214C>T g.141908428C>T MAGEC1(NM_005462.4):c.3024C>T (p.F1008=) - MAGEC1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3086G>A r.(?) p.(Arg1029His) - VUS g.140996276G>A g.141908490G>A - - MAGEC1_000052 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 - c.3107_3112del r.(?) p.(Ala1036_Phe1037del) - VUS g.140996297_140996302del g.141908511_141908516del MAGEC1(NM_005462.4):c.3102_3107del (p.(Ala1036_Phe1037del)) - MAGEC1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.3149A>C r.(?) p.(Gln1050Pro) - likely benign g.140996339A>C g.141908553A>C MAGEC1(NM_005462.4):c.3149A>C (p.Q1050P, p.(Gln1050Pro)) - MAGEC1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.3169C>T r.(?) p.(Arg1057Trp) - likely benign g.140996359C>T g.141908573C>T MAGEC1(NM_005462.4):c.3169C>T (p.(Arg1057Trp)) - MAGEC1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3174G>A r.(=) p.(=) - likely benign g.140996364G>A g.141908578G>A E1058E - MAGEC1_000061 recurrent, found 23 times PubMed: Tarpey 2009 - - Germline - 23/208 cases - - - Lucy Raymond
?/. 1 - c.3197G>A r.(?) p.(Arg1066His) - VUS g.140996387G>A g.141908601G>A MAGEC1(NM_005462.4):c.3197G>A (p.R1066H) - MAGEC1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3201C>T r.(?) p.(Tyr1067=) - likely benign g.140996391C>T g.141908605C>T MAGEC1(NM_005462.4):c.3201C>T (p.Y1067=) - MAGEC1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3278_3281dup r.(?) p.(Val1095TyrfsTer26) - VUS g.140996468_140996471dup g.141908682_141908685dup MAGEC1(NM_005462.4):c.3278_3281dupATAC (p.V1095Yfs*26) - MAGEC1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3395C>T r.(?) p.(Ser1132Phe) - VUS g.140996585C>T - MAGEC1(NM_005462.4):c.3395C>T (p.S1132F) - MAGEC1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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