SMC5 — 128 ClinVar variants
All ClinVar germline SMC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 109 flagged for review →
3 Pathogenic · 2 Likely pathogenic · 5 Benign · 7 Likely benign · 111 Uncertain significance
Full SMC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 109
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
SMC5 p.Ala166Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ala615Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ala735Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ala791Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ala870Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg1031Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg1091Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg1092Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg1092Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg1094Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg1094His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg317Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg317His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg409Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg461His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg602Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg608Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg796Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn1022Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn395Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn496Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn782Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn808Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn945Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn962Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asp670Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Cys308Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Cys393Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Cys393Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Cys726Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gln1089Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gln171Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gln559Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gln651Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gln825Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gln842Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu294Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu316Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu326Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu650Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu696Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu780Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gly117Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gly830Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Gly994Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.His351Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.His663Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.His764Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile1052Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile140Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile203Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile604Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile66Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile778Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile78Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile900Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Leu218Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Leu262Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Leu387Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Leu812Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Lys455Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Lys478Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Lys542Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Met1036Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Phe150Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Pro73Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Pro844Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Thr1000Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Thr1096Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Thr488Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Thr702Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Thr894Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Trp469Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Tyr1072Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Tyr579Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Tyr966His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val110Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val240Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val292Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val306Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val344Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val361Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val620Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 26
The independent predictors disagree with each other — read with care.
-
SMC5 p.Arg289Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg409Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg597Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Arg896Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Asn145Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu244Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu752Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Glu892Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.His74Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ile771Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Lys362Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Lys455Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Lys767Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Lys781Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Met379Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Met520Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Phe150Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Phe570Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Phe802Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Pro541Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ser119Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Ser578Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Tyr893Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val1033Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.Val273Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
SMC5 p.His990Asp
Pathogenic
No assertion criteria
Atelis syndrome 2
All SMC5 variants
Pathogenic 3
- p.Arg372del No assertion criteria Atelis syndrome 2
- p.Arg425Ter No assertion criteria Atelis syndrome 2
- p.His990Asp No assertion criteria Atelis syndrome 2 ⚠
Likely pathogenic 2
- p.Gly117Ter Single submitter Atelis syndrome 2
- p.Ser564_Tyr565insTer Single submitter Atelis syndrome 2
Benign 5
- c.2274+6G>A Multiple submitters
- p.Arg733Gln Multiple submitters
- p.Gln692= Multiple submitters
- p.Leu659= Multiple submitters
- p.Val90= Multiple submitters
Likely benign 7
- c.2151-15A>G Single submitter Atelis syndrome 2
- p.Arg428Lys Single submitter Inborn genetic diseases
- p.Asn405Asp Single submitter
- p.Lys210Arg Single submitter Inborn genetic diseases
- p.Val240Ile Single submitter Inborn genetic diseases
- p.Val79Ile Single submitter Inborn genetic diseases
- p.Cys393= No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 111
- p.Glu226Lys Multiple submitters Inborn genetic diseases
- p.Ala166Ser Single submitter Inborn genetic diseases ⚠
- p.Ala615Val Single submitter Inborn genetic diseases ⚠
- p.Ala735Thr Single submitter Inborn genetic diseases ⚠
- p.Ala791Thr Single submitter Inborn genetic diseases ⚠
- p.Ala870Thr Single submitter Inborn genetic diseases ⚠
- p.Arg1031Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1091Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1092Gln Single submitter Inborn genetic diseases ⚠
- p.Arg1092Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1094Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1094His Single submitter Inborn genetic diseases ⚠
- p.Arg289Ser Single submitter Inborn genetic diseases ⚠
- p.Arg317Cys Single submitter Inborn genetic diseases ⚠
- p.Arg317His Single submitter Inborn genetic diseases ⚠
- p.Arg409Gln Single submitter Inborn genetic diseases ⚠
- p.Arg409Trp Single submitter Inborn genetic diseases ⚠
- p.Arg461His Single submitter Inborn genetic diseases ⚠
- p.Arg597Gly Single submitter Inborn genetic diseases ⚠
- p.Arg602Gln Single submitter Inborn genetic diseases ⚠
- p.Arg608Gln Single submitter Inborn genetic diseases ⚠
- p.Arg796Cys Single submitter Inborn genetic diseases ⚠
- p.Arg896Lys Single submitter Inborn genetic diseases ⚠
- p.Asn1022Ser Single submitter Inborn genetic diseases ⚠
- p.Asn145Asp Single submitter Inborn genetic diseases ⚠
- p.Asn395Asp Single submitter Inborn genetic diseases ⚠
- p.Asn496Thr Single submitter Inborn genetic diseases ⚠
- p.Asn782Lys Single submitter Inborn genetic diseases ⚠
- p.Asn808Ser Single submitter Inborn genetic diseases ⚠
- p.Asn945Ser Single submitter Inborn genetic diseases ⚠
- p.Asn962Thr Single submitter Inborn genetic diseases ⚠
- p.Asp670Asn Single submitter Inborn genetic diseases ⚠
- p.Cys308Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys393Trp Single submitter Inborn genetic diseases ⚠
- p.Cys393Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys726Trp Single submitter Inborn genetic diseases ⚠
- p.Gln1089Leu Single submitter Inborn genetic diseases ⚠
- p.Gln171Leu Single submitter Inborn genetic diseases ⚠
- p.Gln559Lys Single submitter Inborn genetic diseases ⚠
- p.Gln651Arg Single submitter Inborn genetic diseases ⚠
- p.Gln825Glu Single submitter Inborn genetic diseases ⚠
- p.Gln842Leu Single submitter Inborn genetic diseases ⚠
- p.Glu244Gly Single submitter Inborn genetic diseases ⚠
- p.Glu294Gln Single submitter Inborn genetic diseases ⚠
- p.Glu316Lys Single submitter Inborn genetic diseases ⚠
- p.Glu326Gly Single submitter Inborn genetic diseases ⚠
- p.Glu650Gly Single submitter Inborn genetic diseases ⚠
- p.Glu696Lys Single submitter Inborn genetic diseases ⚠
- p.Glu752Lys Single submitter Inborn genetic diseases ⚠
- p.Glu780Ala Single submitter Inborn genetic diseases ⚠
- p.Glu892Lys Single submitter Inborn genetic diseases ⚠
- p.Gly117Val Single submitter Inborn genetic diseases ⚠
- p.Gly830Ser Single submitter Inborn genetic diseases ⚠
- p.Gly994Ser Single submitter Inborn genetic diseases ⚠
- p.His351Asn Single submitter Inborn genetic diseases ⚠
- p.His663Arg Single submitter Inborn genetic diseases ⚠
- p.His74Gln Single submitter Inborn genetic diseases ⚠
- p.His764Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile1052Val Single submitter Inborn genetic diseases ⚠
- p.Ile140Thr Single submitter Inborn genetic diseases ⚠
- p.Ile203Val Single submitter Inborn genetic diseases ⚠
- p.Ile604Leu Single submitter Inborn genetic diseases ⚠
- p.Ile66Val Single submitter Inborn genetic diseases ⚠
- p.Ile771Thr Single submitter Inborn genetic diseases ⚠
- p.Ile778Phe Single submitter Inborn genetic diseases ⚠
- p.Ile78Val Single submitter Inborn genetic diseases ⚠
- p.Ile900Lys Single submitter Inborn genetic diseases ⚠
- p.Leu218Val Single submitter Inborn genetic diseases ⚠
- p.Leu262Phe Single submitter Inborn genetic diseases ⚠
- p.Leu387Val Single submitter Inborn genetic diseases ⚠
- p.Leu812Phe Single submitter Inborn genetic diseases ⚠
- p.Lys362Thr Single submitter Inborn genetic diseases ⚠
- p.Lys455Gln Single submitter Inborn genetic diseases ⚠
- p.Lys455Glu Single submitter Inborn genetic diseases ⚠
- p.Lys478Arg Single submitter Inborn genetic diseases ⚠
- p.Lys542Arg Single submitter Inborn genetic diseases ⚠
- p.Lys767Glu Single submitter Inborn genetic diseases ⚠
- p.Lys781Asn Single submitter Inborn genetic diseases ⚠
- p.Met1036Ile Single submitter Inborn genetic diseases ⚠
- p.Met1066Val Single submitter Inborn genetic diseases
- p.Met379Arg Single submitter Inborn genetic diseases ⚠
- p.Met520Arg Single submitter Inborn genetic diseases ⚠
- p.Phe150Ile Single submitter Inborn genetic diseases ⚠
- p.Phe150Leu Single submitter Inborn genetic diseases ⚠
- p.Phe570Leu Single submitter Inborn genetic diseases ⚠
- p.Phe802Leu Single submitter Inborn genetic diseases ⚠
- p.Pro541Ser Single submitter Inborn genetic diseases ⚠
- p.Pro73Ser Single submitter Inborn genetic diseases ⚠
- p.Pro844Leu Single submitter Inborn genetic diseases ⚠
- p.Ser119Cys Single submitter Inborn genetic diseases ⚠
- p.Ser578Arg Single submitter Inborn genetic diseases ⚠
- p.Thr1000Ala Single submitter Inborn genetic diseases ⚠
- p.Thr1096Ala Single submitter Inborn genetic diseases ⚠
- p.Thr488Met Single submitter Inborn genetic diseases ⚠
- p.Thr702Asn Single submitter Inborn genetic diseases ⚠
- p.Thr894Ile Single submitter Inborn genetic diseases ⚠
- p.Trp469Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr1072Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr246Cys Single submitter Inborn genetic diseases
- p.Tyr579Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr893Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr966His Single submitter Inborn genetic diseases ⚠
- p.Val1033Met Single submitter Inborn genetic diseases ⚠
- p.Val110Ala Single submitter Inborn genetic diseases ⚠
- p.Val240Ala Single submitter Inborn genetic diseases ⚠
- p.Val273Leu Single submitter Inborn genetic diseases ⚠
- p.Val292Leu Single submitter Inborn genetic diseases ⚠
- p.Val306Ala Single submitter Inborn genetic diseases ⚠
- p.Val344Ile Single submitter Inborn genetic diseases ⚠
- p.Val361Ile Single submitter Inborn genetic diseases ⚠
- p.Val620Met Single submitter Inborn genetic diseases ⚠