Unique variants in the MAGEC2 gene

Information The variants shown are described using the NM_016249.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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.-311A>G r.(?) p.(=) - VUS g.141293039T>C g.142205253T>C - - MAGEC2_000005 - - - - Germline - - - - - Yu Sun
-?/. 2 - c.19G>A r.(?) p.(Val7Ile) - likely benign g.141291755C>T g.142203969C>T MAGEC2(NM_016249.3):c.19G>A (p.V7I, p.(Val7Ile)) - MAGEC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.40_42del r.(?) p.(Asn14del) - VUS g.141291734_141291736del g.142203948_142203950del 40_42delAAC - MAGEC2_000014 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.209_211del r.(?) p.(Glu70del) - likely benign g.141291573_141291575del g.142203787_142203789del MAGEC2(NM_016249.3):c.209_211del (p.(Glu70del)) - MAGEC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.272C>T r.(?) p.(Pro91Leu) - likely benign g.141291502G>A g.142203716G>A MAGEC2(NM_016249.3):c.272C>T (p.P91L) - MAGEC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.326G>T r.(?) p.(Trp109Leu) - likely benign g.141291448C>A - MAGEC2(NM_016249.3):c.326G>T (p.W109L) - MAGEC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.586G>A r.(?) p.(Ala196Thr) - likely benign g.141291188C>T g.142203402C>T MAGEC2(NM_016249.4):c.586G>A (p.A196T) - MAGEC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.619G>A r.(?) p.(Val207Met) - likely benign g.141291155C>T g.142203369C>T MAGEC2(NM_016249.3):c.619G>A (p.(Val207Met)) - MAGEC2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.796G>A r.(?) p.(Val266Ile) - likely benign g.141290978C>T - MAGEC2(NM_016249.3):c.796G>A (p.V266I) - MAGEC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.824C>G r.(?) p.(Thr275Ser) - likely benign, VUS g.141290950G>C g.142203164G>C MAGEC2(NM_016249.3):c.824C>G (p.(Thr275Ser)) - MAGEC2_000013 recurrent, found 2 times, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline - 2/208 cases - - - Lucy Raymond, VKGL-NL_Leiden
?/. 3 - c.909G>A r.(=), r.(?) p.(=) - VUS g.141290865C>T g.142203079C>T P303P - MAGEC2_000002 recurrent, found 139 times PubMed: Tarpey 2009 - - Germline - 139/208 cases - - - Yu Sun, Lucy Raymond
?/. 1 - c.*350del r.(=) p.(=) - VUS g.141290302del g.142202516del - - MAGEC2_000008 - - - - Germline - - - - - Yu Sun
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