All variants in the MAGEC3 gene

Information The variants shown are described using the NM_138702.1 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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Effect     

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     
-?/. - c.200G>A r.(?) p.(Arg67Lys) - likely benign g.140953333G>A - MAGEC3(NM_138702.1):c.200G>A (p.R67K) - MAGEC3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.221G>A r.(?) p.(Arg74Gln) - likely benign g.140953354G>A - MAGEC3(NM_138702.1):c.221G>A (p.(Arg74Gln)) - MAGEC3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.230G>A r.(?) p.(Ser77Asn) - likely benign g.140953363G>A g.141865577G>A MAGEC3(NM_138702.1):c.230G>A (p.(Ser77Asn)) - MAGEC3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.269C>A r.(?) p.(Thr90Asn) - likely benign g.140966971C>A - MAGEC3(NM_138702.1):c.269C>A (p.T90N) - MAGEC3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.279G>A r.(?) p.(Gly93=) - likely benign g.140966981G>A - MAGEC3(NM_138702.1):c.279G>A (p.G93=) - MAGEC3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.305T>C r.(?) p.(Leu102Ser) - likely benign g.140967007T>C g.141879221T>C MAGEC3(NM_138702.1):c.305T>C (p.L102S) - MAGEC3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.361A>G r.(?) p.(Lys121Glu) - likely benign g.140967063A>G g.141879277A>G MAGEC3(NM_138702.1):c.361A>G (p.(Lys121Glu)) - MAGEC3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.419A>T r.(?) p.(Asp140Val) - VUS g.140967121A>T g.141879335A>T - - MAGEC3_000019 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.463T>C r.(?) p.(Ser155Pro) - VUS g.140967165T>C g.141879379T>C - - MAGEC3_000020 recurrent, found 13 times PubMed: Tarpey 2009 - - Germline - 13/208 cases - 0 - Lucy Raymond
?/. - c.493T>A r.(?) p.(Leu165Met) - VUS g.140967195T>A g.141879409T>A - - MAGEC3_000021 recurrent, found 11 times PubMed: Tarpey 2009 - - Germline - 11/208 cases - 0 - Lucy Raymond
-?/. - c.667C>T r.(?) p.(Pro223Ser) - likely benign g.140969340C>T g.141881554C>T MAGEC3(NM_138702.1):c.667C>T (p.P223S) - MAGEC3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.683A>G r.(?) p.(Lys228Arg) - benign g.140969356A>G g.141881570A>G MAGEC3(NM_138702.1):c.683A>G (p.K228R) - MAGEC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.689G>C r.(?) p.(Arg230Pro) - likely benign g.140969362G>C g.141881576G>C MAGEC3(NM_138702.1):c.689G>C (p.R230P) - MAGEC3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.740del r.(?) p.(Asp247AlafsTer7) - VUS g.140969413del g.141881627del MAGEC3(NM_138702.1):c.740delA (p.D247Afs*7) - MAGEC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.887G>T r.(?) p.(Trp296Leu) - VUS g.140969560G>T - MAGEC3(NM_138702.1):c.887G>T (p.W296L) - MAGEC3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.910-24A>G r.(?) p.(=) - VUS g.140983031A>G g.141895245A>G - - MAGEC3_000007 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - n.910-24A>G r.(?) p.(=) - VUS g.140983031A>G g.141895245A>G - - MAGEC3_000007 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - n.919G>A r.(?) p.(Ala307Thr) - VUS g.140983064G>A g.141895278G>A - - MAGEC3_000001 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - n.919G>A r.(?) p.(Ala307Thr) - VUS g.140983064G>A g.141895278G>A - - MAGEC3_000001 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - c.956C>T r.(?) p.(Ala319Val) - VUS g.140983101C>T g.141895315C>T MAGEC3(NM_138702.1):c.956C>T (p.A319V) - MAGEC3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.991G>A r.(?) p.(Glu331Lys) - likely benign g.140983136G>A g.141895350G>A MAGEC3(NM_138702.1):c.991G>A (p.E331K) - MAGEC3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.992del r.(?) p.(Glu331GlyfsTer13) - VUS g.140983137del g.141895351del MAGEC3(NM_138702.1):c.992delA (p.E331Gfs*13) - MAGEC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1049-10G>A r.(=) p.(=) - likely benign g.140983261G>A - MAGEC3(NM_138702.1):c.1049-10G>A - MAGEC3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1049-7G>A r.(=) p.(=) - likely benign g.140983264G>A g.141895478G>A MAGEC3(NM_138702.1):c.1049-7G>A (p.(=)) - MAGEC3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1097C>T r.(?) p.(Ala366Val) - likely benign g.140983319C>T - MAGEC3(NM_138702.1):c.1097C>T (p.A366V) - MAGEC3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1100C>T r.(?) p.(Ser367Phe) - VUS g.140983322C>T g.141895536C>T MAGEC3(NM_138702.1):c.1100C>T (p.S367F) - MAGEC3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - n.1124-418C>T r.(?) p.(=) - VUS g.140984250C>T g.141896464C>T - - MAGEC3_000004 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
?/. - n.1124-418C>T r.(?) p.(=) - VUS g.140984250C>T g.141896464C>T - - MAGEC3_000004 Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Germline - - - - - Yu Sun
-?/. - c.1124-225C>G r.(=) p.(=) - likely benign g.140984443C>G - MAGEC3(NM_177456.2):c.5C>G (p.P2R) - MAGEC3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1124-202C>T r.(=) p.(=) - likely benign g.140984466C>T g.141896680C>T MAGEC3(NM_177456.2):c.28C>T (p.L10F) - MAGEC3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1124-156T>G r.(=) p.(=) - benign g.140984512T>G g.141896726T>G MAGEC3(NM_177456.2):c.74T>G (p.L25W) - MAGEC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1176_1199dup r.(?) p.(Glu393_Pro400dup) - VUS g.140984720_140984743dup g.141896934_141896957dup MAGEC3(NM_138702.1):c.1168_1169insGTCCTCCTGAGATTCCTCCCCAGG (p.?) - MAGEC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1178A>C r.(?) p.(Glu393Ala) - likely benign g.140984722A>C g.141896936A>C MAGEC3(NM_138702.1):c.1178A>C (p.E393A) - MAGEC3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1190A>C r.(?) p.(Gln397Pro) - likely benign g.140984734A>C - MAGEC3(NM_138702.1):c.1190A>C (p.Q397P) - MAGEC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1213C>T r.(?) p.(Gln405Ter) - VUS g.140984757C>T - MAGEC3(NM_138702.1):c.1213C>T (p.Q405*) - MAGEC3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1280G>A r.(?) p.(Arg427Gln) - likely benign g.140984824G>A g.141897038G>A MAGEC3(NM_138702.1):c.1280G>A (p.R427Q) - MAGEC3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1456G>A r.(?) p.(Val486Ile) - likely benign g.140985000G>A g.141897214G>A MAGEC3(NM_138702.1):c.1456G>A (p.V486I) - MAGEC3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1459A>C r.(?) p.(Ile487Leu) - likely benign g.140985003A>C g.141897217A>C MAGEC3(NM_138702.1):c.1459A>C (p.I487L) - MAGEC3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1495G>A r.(?) p.(Gly499Arg) - likely benign g.140985039G>A g.141897253G>A MAGEC3(NM_138702.1):c.1495G>A (p.G499R) - MAGEC3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1554C>T r.(?) p.(Pro518=) - likely benign g.140985098C>T - MAGEC3(NM_138702.1):c.1554C>T (p.P518=) - MAGEC3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1581C>T r.(?) p.(Asp527=) - likely benign g.140985125C>T - MAGEC3(NM_138702.1):c.1581C>T (p.D527=) - MAGEC3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1598A>G r.(?) p.(Tyr533Cys) - likely benign g.140985142A>G g.141897356A>G MAGEC3(NM_138702.1):c.1598A>G (p.Y533C) - MAGEC3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1699G>T r.(?) p.(Val567Phe) - benign g.140985243G>T g.141897457G>T MAGEC3(NM_138702.1):c.1699G>T (p.V567F) - MAGEC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1699G>T r.(?) p.(Val567Phe) - VUS g.140985243G>T g.141897457G>T - - MAGEC3_000016 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - Lucy Raymond
-?/. - c.1728+46C>G r.(=) p.(=) - likely benign g.140985318C>G g.141897532C>G MAGEC3(NM_177456.2):c.880C>G (p.(Leu294Val)) - MAGEC3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1728+59A>T r.(=) p.(=) - likely benign g.140985331A>T - MAGEC3(NM_177456.2):c.893A>T (p.H298L) - MAGEC3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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