All variants in the SMC3 gene

Information The variants shown are described using the NM_005445.3 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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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.15+8C>T r.(=) p.(=) - likely benign g.112327597C>T g.110567839C>T SMC3(NM_005445.3):c.15+8C>T - SMC3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.91+6T>C r.(=) p.(=) - VUS g.112328777T>C - SMC3(NM_005445.3):c.91+6T>C (p.?) - SMC3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.92-19A>G r.(=) p.(=) - benign g.112333446A>G g.110573688A>G - - SMC3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 4 c.139T>C r.(?) p.(Phe47Leu) - likely pathogenic (dominant) g.112335102T>C g.110575344T>C - - SMC3_000003 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Germline/De novo (untested) - - - - - Juan Pié
-?/. - c.255A>G r.(?) p.(Ser85=) - likely benign g.112337235A>G g.110577477A>G SMC3(NM_005445.3):c.255A>G (p.S85=) - SMC3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.289T>C r.(?) p.(Ser97Pro) - likely benign g.112337611T>C g.110577853T>C SMC3(NM_005445.3):c.289T>C (p.S97P) - SMC3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.351-9T>C r.(=) p.(=) - likely benign g.112338377T>C - SMC3(NM_005445.4):c.351-9T>C - SMC3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.430-3dup r.spl? p.? - likely benign g.112340659dup - SMC3(NM_005445.3):c.430-3dupT (p.?) - SMC3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.430-1G>C r.spl? p.? - likely pathogenic g.112340661G>C g.110580903G>C - - SMC3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.446C>T r.(?) p.(Thr149Ile) - VUS g.112340678C>T g.110580920C>T SMC3(NM_005445.4):c.446C>T (p.T149I) - SMC3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.512G>A r.(?) p.(Arg171Gln) - likely pathogenic g.112340744G>A g.110580986G>A SMC3(NM_005445.4):c.512G>A (p.R171Q) - SMC3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.512G>A r.(?) p.(Arg171Gln) - likely pathogenic g.112340744G>A - SMC3(NM_005445.4):c.512G>A (p.R171Q) - SMC3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.548-5_548-4dup r.spl? p.? - benign g.112341676_112341677dup g.110581918_110581919dup SMC3(NM_005445.3):c.548-5_548-4dup (p.(=)), SMC3(NM_005445.4):c.548-5_548-4dupTT - SMC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.548-5_548-4dup r.spl? p.? - likely benign g.112341676_112341677dup g.110581918_110581919dup SMC3(NM_005445.3):c.548-5_548-4dup (p.(=)), SMC3(NM_005445.4):c.548-5_548-4dupTT - SMC3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 9 c.587T>C r.(?) p.(Ile196Thr) - likely pathogenic (dominant) g.112341720T>C g.110581962T>C - - SMC3_000066 - PubMed: Yuan 2019 - - De novo - - - - - Johan den Dunnen
+?/. 9 c.703_705del r.(?) p.(Thr235del) - likely pathogenic (dominant) g.112341836_112341838del g.110582078_110582080del 703_705delACT - SMC3_000004 de novo, somatic mosaicism PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Somatic - - - - - Juan Pié
+?/. 9 c.707G>C r.(?) p.(Arg236Pro) - likely pathogenic (dominant) g.112341840G>C g.110582082G>C - - SMC3_000005 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - De novo - - - - - Juan Pié
+?/. 9 c.720_722del r.(?) p.(Asp240del) - likely pathogenic (dominant) g.112341853_112341855del g.110582095_110582097del c.717_719del - SMC3_000064 - PubMed: Yuan 2019 - - De novo - - - - - Johan den Dunnen
-?/. - c.724-6dup r.(=) p.(=) - likely benign g.112342314dup g.110582556dup SMC3(NM_005445.4):c.724-6dupT - SMC3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 11 c.859_861dup r.(?) p.(Glu287dup) - likely pathogenic (dominant) g.112343196_112343198dup g.110583438_110583440dup - - SMC3_000006 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Germline/De novo (untested) - - - - - Juan Pié
?/. - c.956A>G r.(?) p.(Asn319Ser) - VUS g.112343293A>G - - - SMC3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.970-8G>A r.(=) p.(=) - benign g.112343591G>A g.110583833G>A - - SMC3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.970-5T>C r.spl? p.? - likely benign g.112343594T>C - SMC3(NM_005445.3):c.970-5T>C (p.?) - SMC3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.989G>A r.(?) p.(Arg330Lys) - VUS g.112343618G>A - SMC3(NM_005445.3):c.989G>A (p.(Arg330Lys)) - SMC3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1092-18T>C r.(=) p.(=) - benign g.112343923T>C g.110584165T>C - - SMC3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1141C>T r.(?) p.(Arg381*) - likely pathogenic g.112343990C>T - - - SMC3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1162_1164del r.(?) p.(Lys388del) - likely pathogenic g.112344011_112344013del - SMC3(NM_005445.4):c.1162_1164delAAA (p.K388del) - SMC3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 13 c.1200_1202del r.(?) p.(Lys400_Ser401delinsAsn) - likely pathogenic (dominant) g.112344049_112344051del g.110584291_110584293del 1200_1202delGTC - SMC3_000007 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Germline/De novo (untested) - - - - - Juan Pié
-?/. - c.1280A>G r.(?) p.(Lys427Arg) - likely benign g.112344129A>G - SMC3(NM_005445.3):c.1280A>G (p.(Lys427Arg)) - SMC3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1288A>T r.(?) p.(Asn430Tyr) - VUS g.112344137A>T - SMC3(NM_005445.4):c.1288A>T (p.N430Y) - SMC3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1306-399G>A r.(=) p.(=) - likely benign g.112348964G>A - SMC3(NM_005445.4):c.1306-399G>A - SMC3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1365T>C r.(?) p.(Tyr455=) - likely benign g.112349422T>C g.110589664T>C SMC3(NM_005445.3):c.1365T>C (p.(Tyr455=)) - SMC3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 15 c.1453_1455del r.(?) p.(Ala485del) - likely pathogenic (dominant) g.112349693_112349695del g.110589935_110589937del - - SMC3_000067 - PubMed: Yuan 2019 - - De novo - - - - - Johan den Dunnen
+?/. 15 c.1462G>A r.(?) p.(Glu488Lys) - likely pathogenic (dominant) g.112349702G>A g.110589944G>A - - SMC3_000016 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Germline/De novo (untested) - - - - - Juan Pié
+?/. 15 c.1464_1466del r.(?) p.(Glu488del) - likely pathogenic (dominant) g.112349704_112349706del g.110589946_110589948del 1464_1466delAGA - SMC3_000001 not in >350 control chromosomes; de novo in patient PubMed: Deardorff 2007, OMIM:var0001 - - De novo - - - - - Johan den Dunnen
+?/. 15 c.1464_1466del r.(?) p.(Glu488del) - likely pathogenic (dominant) g.112349704_112349706del g.110589946_110589948del 1464_1466delAGA - SMC3_000008 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - De novo - - - - - Juan Pié
+/. 15 c.1464_1466del r.(?) p.Glu488del - NA g.112349704_112349706del g.110589946_110589948del - - SMC3_000001 increased affinity of SMC hinge dimers for DNA binding PubMed: Revenkova 2009, OMIM:var0001 - - In vitro (cloned) - - - - - Johan den Dunnen
?/. - c.1501A>G r.(?) p.(Thr501Ala) - VUS g.112349741A>G g.110589983A>G SMC3(NM_005445.3):c.1501A>G (p.(Thr501Ala)) - SMC3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 16 c.1561C>T r.(?) p.(Arg521*) - likely pathogenic (dominant) g.112350221C>T g.110590463C>T - - SMC3_000009 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Germline/De novo (untested) - - - - - Juan Pié
-?/. - c.1581T>C r.(?) p.(His527=) - likely benign g.112350241T>C g.110590483T>C SMC3(NM_005445.3):c.1581T>C (p.H527=) - SMC3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1671-6A>G r.(=) p.(=) - likely benign g.112350743A>G g.110590985A>G SMC3(NM_005445.3):c.1671-6A>G (p.(=)) - SMC3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1671-6A>G r.(=) p.(=) - likely benign g.112350743A>G g.110590985A>G SMC3(NM_005445.3):c.1671-6A>G (p.(=)) - SMC3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1671-4T>C r.spl? p.? - likely benign g.112350745T>C g.110590987T>C SMC3(NM_005445.3):c.1671-4T>C (p.?) - SMC3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1963+5G>T r.spl? p.? - VUS g.112352986G>T - SMC3(NM_005445.3):c.1963+5G>T (p.?) - SMC3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 19 c.1964G>A r.(?) p.(Gly655Asp) - likely pathogenic (dominant) g.112356156G>A g.110596398G>A - - SMC3_000010 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - De novo - - - - - Juan Pié
+/. 19 c.1964G>A r.(?) p.(Gly655Asp) - pathogenic (dominant) g.112356156G>A g.110596398G>A - - SMC3_000010 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - Johan den Dunnen
+?/. 19 c.1997G>C r.(?) p.(Gly666Ala) - likely pathogenic (dominant) g.112356189G>C g.110596431G>C - - SMC3_000017 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - De novo - - - - - Juan Pié
-?/. - c.2007T>C r.(?) p.(Tyr669=) - likely benign g.112356199T>C g.110596441T>C SMC3(NM_005445.3):c.2007T>C (p.Y669=) - SMC3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2048dup r.(?) p.(Ala685Serfs*7) - VUS g.112356240dup - - - SMC3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2087T>C r.(?) p.(Leu696Pro) - likely pathogenic g.112356279T>C - SMC3(NM_005445.4):c.2087T>C (p.L696P) - SMC3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 19 c.2111T>C r.(?) p.(Ile704Thr) - likely pathogenic (dominant) g.112356303T>C g.110596545T>C - - SMC3_000068 - PubMed: Yuan 2019 - - De novo - - - - - Johan den Dunnen
-?/. - c.2329T>C r.(?) p.(Leu777=) - likely benign g.112359472T>C g.110599714T>C SMC3(NM_005445.3):c.2329T>C (p.L777=) - SMC3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.2406_2408del r.(?) p.(Asp802del) - pathogenic g.112359549_112359551del - SMC3(NM_005445.4):c.2406_2408delTGA (p.D802del) - SMC3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.2471T>C r.(?) p.(Ile824Thr) - VUS g.112360240T>C - SMC3(NM_005445.3):c.2471T>C (p.(Ile824Thr)) - SMC3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.2474_2476del r.(?) p.(Ile825del) - VUS g.112360243_112360245del - SMC3(NM_005445.3):c.2469_2471del (p.(Ile825del)) - SMC3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 22 c.2494_2499del r.(?) p.(Leu832_Asn833del) - likely pathogenic (dominant) g.112360263_112360268del g.110600505_110600510del - - SMC3_000011 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - De novo - - - - - Juan Pié
-?/. - c.2498A>G r.(?) p.(Asn833Ser) - likely benign g.112360267A>G g.110600509A>G SMC3(NM_005445.3):c.2498A>G (p.(Asn833Ser)) - SMC3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 22 c.2515C>T r.(?) p.(Arg839Cys) - likely pathogenic (dominant) g.112360284C>T g.110600526C>T - - SMC3_000012 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Germline/De novo (untested) - - - - - Juan Pié
-?/. - c.2535+28dup r.(=) p.(=) - likely benign g.112360332dup - SMC3(NM_005445.3):c.2535+12dupT (p.(=)) - SMC3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 22i_23 c.2536-6_2540del r.spl p.? - likely pathogenic (dominant) g.112360774_112360784del g.110601016_110601026del - - SMC3_000065 - PubMed: Yuan 2019 - - De novo - - - - - Johan den Dunnen
-/. - c.2644+6T>A r.(=) p.(=) - benign g.112360894T>A g.110601136T>A SMC3(NM_005445.3):c.2644+6T>A - SMC3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 24 c.2750A>C r.(?) p.(His917Pro) - likely pathogenic (dominant) g.112361500A>C g.110601742A>C - - SMC3_000013 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - De novo - - - - - Juan Pié
+?/. - c.2756C>A r.(?) p.(Thr919Asn) - likely pathogenic g.112361506C>A - - - SMC3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.3035A>G r.(?) p.(Lys1012Arg) - likely benign g.112361866A>G - SMC3(NM_005445.4):c.3035A>G (p.(Lys1012Arg)) - SMC3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3039A>G r.(?) p.(Ser1013=) - benign g.112361870A>G g.110602112A>G SMC3(NM_005445.4):c.3039A>G (p.S1013=) - SMC3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.3039A>G r.(?) p.(Ser1013=) - benign g.112361870A>G g.110602112A>G SMC3(NM_005445.4):c.3039A>G (p.S1013=) - SMC3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 25 c.3039A>G r.(?) p.(=) - likely benign g.112361870A>G g.110602112A>G - - SMC3_000002 - - - rs2419565 Germline - - - - - Johan den Dunnen
-?/. - c.3048A>G r.(?) p.(Glu1016=) - likely benign g.112361879A>G g.110602121A>G SMC3(NM_005445.3):c.3048A>G (p.E1016=) - SMC3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.3231T>A r.(?) p.(Ser1077Arg) - VUS g.112362357T>A g.110602599T>A SMC3(NM_005445.4):c.3231T>A (p.(Ser1077Arg), p.S1077R) - SMC3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.3231T>A r.(?) p.(Ser1077Arg) - VUS g.112362357T>A - SMC3(NM_005445.4):c.3231T>A (p.(Ser1077Arg), p.S1077R) - SMC3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.3271G>A r.(?) p.(Asp1091Asn) - VUS g.112362397G>A - SMC3(NM_005445.4):c.3271G>A (p.(Asp1091Asn)) - SMC3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.3298-3dup r.spl? p.? - likely benign g.112362580dup - SMC3(NM_005445.3):c.3298-3dupT - SMC3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.3349G>A r.(?) p.(Gly1117Ser) - likely pathogenic g.112362634G>A g.110602876G>A - - SMC3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 27 c.3362C>T r.(?) p.(Ser1121Phe) - likely pathogenic (dominant) g.112362647C>T g.110602889C>T - - SMC3_000069 - PubMed: Yuan 2019 - - De novo - - - - - Johan den Dunnen
-?/. - c.3408G>A r.(?) p.(Pro1136=) - likely benign g.112362693G>A g.110602935G>A SMC3(NM_005445.3):c.3408G>A (p.P1136=) - SMC3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 27 c.3439C>G r.(?) p.(Gln1147Glu) - likely pathogenic (dominant) g.112362724C>G g.110602966C>G - - SMC3_000014 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - De novo - - - - - Juan Pié
?/. - c.3484A>G r.(?) p.(Met1162Val) - VUS g.112362950A>G g.110603192A>G SMC3(NM_005445.4):c.3484A>G (p.M1162V) - SMC3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 29 c.3644C>T r.(?) p.(Thr1215Ile) - likely pathogenic (dominant) g.112364050C>T g.110604292C>T - - SMC3_000015 - PubMed: Gil-Rodriguez 2015, Journal: Gil-Rodriguez 2015 - - Germline/De novo (untested) - - - - - Juan Pié
+?/. - c.3646_3647del r.(?) p.(His1216Trpfs*18) - VUS g.112364052_112364053del g.110604294_110604295del NM_005445:c.3642_3643del (T1214fs) - SMC3_000070 - PubMed: Hamdan 2017 - - De novo - - - - - Johan den Dunnen
-?/. - c.*332A>G r.(=) p.(=) - likely benign g.112364392A>G g.110604634A>G - - SMC3_000053 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs117538515 Germline - 13/2793 individuals - - - Mohammed Faruq
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