Full data view for gene MCM8

Information The variants shown are described using the NM_032485.5 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.209A>G r.(?) p.(Asp70Gly) Unknown - VUS g.5933130A>G - - - TRMT6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.303A>C r.(?) p.(Lys101Asn) Unknown - benign g.5935303A>C - MCM8(NM_001281520.1):c.303A>C (p.(Lys101Asn)) - TRMT6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329A>T r.(?) p.(Tyr110Phe) Unknown - likely benign g.5935329A>T - MCM8(NM_032485.5):c.329A>T (p.Y110F), MCM8(NM_032485.6):c.329A>T (p.(Tyr110Phe)) - TRMT6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.329A>T r.(?) p.(Tyr110Phe) Unknown - likely benign g.5935329A>T - MCM8(NM_032485.5):c.329A>T (p.Y110F), MCM8(NM_032485.6):c.329A>T (p.(Tyr110Phe)) - TRMT6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.412A>G r.(?) p.(Ile138Val) Unknown - likely benign g.5935823A>G g.5955177A>G MCM8(NM_001281521.1):c.412A>G (p.I138V) - MCM8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.414A>G r.(?) p.(Ile138Met) Unknown - VUS g.5935825A>G - MCM8(NM_001281520.1):c.414A>G (p.(Ile138Met)), MCM8(NM_032485.5):c.414A>G (p.I138M) - TRMT6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.414A>G r.(?) p.(Ile138Met) Unknown - benign g.5935825A>G - MCM8(NM_001281520.1):c.414A>G (p.(Ile138Met)), MCM8(NM_032485.5):c.414A>G (p.I138M) - TRMT6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.446C>G r.(?) p.(Pro149Arg) Both (homozygous) - pathogenic (recessive) g.5935857C>G - - - MCM8_000005 - PubMed: AlAsiri 2015 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES POF family PubMed: AlAsiri 2015 4-generation family, 3 affected sisters, unaffected heterozygous carrier parents/relatives F yes Saudi Arabia - - - - - 3 Johan den Dunnen
+?/. - c.482A>C r.(?) p.(His161Pro) Both (homozygous) - likely pathogenic (recessive) g.5935893A>C g.5955247A>C NM_001281520.2:c.482A>C - MCM8_000004 - PubMed: Kherraf 2022, Journal: Kherraf 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM P0370 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Tunisia - - - - - 1 Johan den Dunnen
+?/. - c.482A>C r.(?) p.(His161Pro) Both (homozygous) - likely pathogenic (recessive) g.5935893A>C g.5955247A>C NM_001281520.2:c.482A>C - MCM8_000004 - PubMed: Kherraf 2022, Journal: Kherraf 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES INFM P0281 PubMed: Kherraf 2022, Journal: Kherraf 2022 analysis 96 unrelated men M - Tunisia - - - - - 1 Johan den Dunnen
?/. - c.482A>G r.(?) p.(His161Arg) Unknown - VUS g.5935893A>G g.5955247A>G MCM8(NM_001281520.1):c.482A>G (p.(His161Arg)), MCM8(NM_001281521.1):c.482A>G (p.H161R) - MCM8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482A>G r.(?) p.(His161Arg) Unknown - VUS g.5935893A>G - MCM8(NM_001281520.1):c.482A>G (p.(His161Arg)), MCM8(NM_001281521.1):c.482A>G (p.H161R) - MCM8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.482A>G r.(?) p.(His161Arg) Unknown - VUS g.5935893A>G - MCM8(NM_001281520.1):c.482A>G (p.(His161Arg)), MCM8(NM_001281521.1):c.482A>G (p.H161R) - MCM8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.548A>G r.(?) p.(Asn183Ser) Unknown - benign g.5937833A>G - - - MCM8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.826G>C r.(?) p.(Ala276Pro) Unknown - benign g.5943956G>C - - - MCM8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1092T>C r.(?) p.(=) Unknown - benign g.5948540T>C - - - MCM8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1094G>A r.(?) p.(Ser365Asn) Unknown - benign g.5948542G>A - - - MCM8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1305C>T r.(?) p.(=) Unknown - likely benign g.5953752C>T - - - MCM8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1418G>T r.(?) p.(Arg473Leu) Unknown - VUS g.5958544G>T g.5977898G>T MCM8(NM_001281521.1):c.1538G>T (p.R513L) - MCM8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1470_1471insAT r.(?) p.(Leu491Ilefs*88) Both (homozygous) - pathogenic (recessive) g.5958596_5958597insAT .5977950_5977951insAT 1469_1470insTA - MCM8_000007 - PubMed: Tenenbaum-Rakover 2015 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - WES POF FamB PubMed: Tenenbaum-Rakover 2015 4-generation family, 5 affected (5F), unaffected heterozygous carrier parents/relatives F yes Israel Arab - - - - 5 Johan den Dunnen
?/. - c.1906T>C r.(?) p.(Ser636Pro) Unknown - VUS g.5965599T>C - - - MCM8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1953+1G>C r.spl? p.? Unknown - likely pathogenic g.5965647G>C - MCM8(NM_001281521.1):c.2073+1G>C - MCM8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 15i c.1954-1G>A r.[1954del,1954_1992del, 1954_2163del] p.[Val652Trpfs*6,Val652_Gln664del,Val652_Glu721del] Both (homozygous) - pathogenic (recessive) g.5966567G>A - IVS14-1G>A - MCM8_000006 - PubMed: Tenenbaum-Rakover 2015 - rs138761187 Germline yes - - - - DNA, RNA arraySNP, RT-PCR, SEQ, SEQ-NG - WES INF FamA PubMed: Tenenbaum-Rakover 2015 5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M yes Israel Arab - - - - 2 Johan den Dunnen
?/. - c.2012G>T r.(?) p.(Gly671Val) Unknown - VUS g.5966626G>T - MCM8(NM_032485.6):c.2012G>T (p.G671V) - MCM8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2209G>A r.(?) p.(Ala737Thr) Unknown - VUS g.5967973G>A - - - MCM8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2354A>G r.(?) p.(Asn785Ser) Unknown - benign g.5974265A>G - MCM8(NM_001281520.1):c.2354A>G (p.(Asn785Ser)) - MCM8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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