Unique variants in the MAGED2 gene

Information The variants shown are described using the NM_014599.4 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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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     
?/. 2 - c.-30+91A>C r.(=) p.(=) - VUS g.54834957A>C g.54808524A>C - - MAGED2_000001 - - - - Germline - - - - - Yu Sun
-?/., ?/. 2 - c.-29-3C>A r.spl? p.? - likely benign, VUS g.54835733C>A g.54809300C>A MAGED2(NM_014599.5):c.-29-3C>A (p.(=)), MAGED2(NM_177433.2):c.-29-3C>A - MAGED2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.128C>T r.(?) p.(Pro43Leu) - likely benign g.54836237C>T - MAGED2(NM_177433.2):c.128C>T (p.P43L) - MAGED2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.130A>G r.(?) p.(Lys44Glu) - likely benign g.54836239A>G g.54809806A>G MAGED2(NM_014599.5):c.130A>G (p.(Lys44Glu)) - MAGED2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 3 c.252A>G r.(?) p.(=) - likely benign, VUS g.54836361A>G g.54809928A>G S84S - MAGED2_000004 recurrent, found 68 times PubMed: Tarpey 2009 - - Germline - 68/208 cases - - - Yu Sun, Lucy Raymond
+/. 1 - c.274dup r.(?) p.(Thr92Asnfs*7) - pathogenic (recessive) g.54836383dup g.54809950dup 274dupA - MAGED2_000040 - PubMed: Laghmani 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/. 1 - c.375G>A r.(?) p.(Lys125=) - likely benign g.54836484G>A g.54810051G>A MAGED2(NM_177433.2):c.375G>A (p.K125=) - MAGED2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.386_387del r.(?) p.(Val129Glyfs*2) - pathogenic (recessive) g.54836495_54836496del g.54810062_54810063del 386_87delTG - MAGED2_000041 - PubMed: Laghmani 2015 - - Germline yes - - - - Johan den Dunnen
-?/., ?/. 3 3 c.396A>G r.(?) p.(=) - likely benign, VUS g.54836505A>G g.54810072A>G T132T - MAGED2_000007 recurrent, found 68 times PubMed: Tarpey 2009 - - Germline - 68/208 cases - - - Yu Sun, Lucy Raymond
+/. 1 - c.397A>T r.(?) p.(Lys133*) - pathogenic (recessive) g.54836506A>T g.54810073A>T - - MAGED2_000042 - PubMed: Laghmani 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
-?/., ?/. 3 4 c.624C>T r.(?) p.(=) - likely benign, VUS g.54837340C>T g.54810907C>T A208A - MAGED2_000010 recurrent, found 48 times PubMed: Tarpey 2009 - - Germline - 48/208 cases - - - Yu Sun, Lucy Raymond
+/. 1 - c.847-9C>G r.(846_847insucugccag) p.(Trp283Serfs*11) - pathogenic (recessive) g.54837674C>G g.54811241C>G - - MAGED2_000038 effect on RNA from mini-gene splicing assasy PubMed: Laghmani 2015 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.887C>T r.(?) p.(Thr296Met) - likely benign, VUS g.54837723C>T g.54811290C>T MAGED2(NM_014599.5):c.887C>T (p.(Thr296Met)), MAGED2(NM_177433.2):c.887C>T (p.T296M) - MAGED2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/., ?/. 3 6 c.981C>T r.(?) p.(=) - likely benign, VUS g.54838077C>T g.54811644C>T S327S - MAGED2_000027 recurrent, found 68 times PubMed: Tarpey 2009 - - Germline - 68/208 cases - - - Yu Sun, Lucy Raymond
?/. 2 - c.991-238C>A r.(=) p.(=) - VUS g.54838352C>A g.54811919C>A - - MAGED2_000017 - - - - Germline - - - - - Yu Sun
?/. 2 - c.991-153G>A r.(=) p.(=) - VUS g.54838437G>A g.54812004G>A - - MAGED2_000020 - - - - Germline - - - - - Yu Sun
+/. 3 - c.991-2A>G r.spl p.? - pathogenic (recessive) g.54838588A>G g.54812155A>G - - MAGED2_000043 - PubMed: Laghmani 2015 - - Germline yes - - - - Johan den Dunnen
+/. 3 - c.1038C>G r.(?) p.(Tyr346*) - pathogenic (recessive) g.54838637C>G g.54812204C>G - - MAGED2_000044 - PubMed: Laghmani 2015 - - Germline yes - - - - Johan den Dunnen
-?/. 1 - c.1191G>A r.(?) p.(Lys397=) - likely benign g.54839576G>A g.54813143G>A MAGED2(NM_177433.2):c.1191G>A (p.K397=) - MAGED2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1271+30C>T r.(=) p.(=) - VUS g.54840013C>T g.54813580C>T - - MAGED2_000023 - - - - Germline - - - - - Yu Sun
+/. 1 - c.1336C>T r.(?) p.(Arg446Cys) - pathogenic (recessive) g.54841158C>T g.54814725C>T - - MAGED2_000045 - PubMed: Laghmani 2015 - - Germline - - - - - Johan den Dunnen
?/. 2 - c.1387-224G>A r.(=) p.(=) - VUS g.54841457G>A g.54815024G>A - - MAGED2_000012 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 12 c.1443G>A r.(?) p.(=) - likely benign, VUS g.54841737G>A g.54815304G>A A481A - MAGED2_000015 recurrent, found 27 times PubMed: Tarpey 2009 - - Germline - 27/208 cases - - - Yu Sun, Lucy Raymond
+/. 2 - c.1464_1475del r.(?) p.(Ala490_Ala493del) - pathogenic (recessive) g.54841758_54841769del g.54815325_54815336del 1462_73del12 - MAGED2_000046 - PubMed: Laghmani 2015 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.1484C>G r.(1484_*8del) 1 more item - pathogenic (recessive) g.54841778C>G g.54815345C>G (A495Dfs*39) - MAGED2_000039 RNA effect predicted from mini-gene splicing assay PubMed: Laghmani 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1598C>T r.(?) p.(Ala533Val) - VUS g.54841892C>T - - - MAGED2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1670A>G r.(?) p.(Asn557Ser) - VUS g.54841964A>G g.54815531A>G MAGED2(NM_014599.5):c.1670A>G (p.(Asn557Ser)) - MAGED2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.1729G>A r.(?) p.(Ala577Thr) - likely benign g.54842023G>A g.54815590G>A MAGED2(NM_014599.5):c.1729G>A (p.(Ala577Thr)), MAGED2(NM_177433.2):c.1729G>A (p.A577T) - MAGED2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
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