MC3R — 134 ClinVar variants
All ClinVar germline MC3R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
2 Conflicting · 4 Benign · 38 Likely benign · 90 Uncertain significance
Full MC3R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MC3R p.Leu106Val Uncertain significance Multiple submitters
- MC3R p.Thr13Ala Uncertain significance Multiple submitters
- MC3R p.Thr157Asn Uncertain significance Multiple submitters
- MC3R p.Ala214Glu Uncertain significance Single submitter
- MC3R p.Ala222Pro Uncertain significance Single submitter
- MC3R p.Ala92Ser Uncertain significance Single submitter
- MC3R p.Arg302Gln Uncertain significance Single submitter
- MC3R p.Arg311Thr Uncertain significance Single submitter
-
MC3R p.Asn91Ser
Uncertain significance
Single submitter
MC3R-related disorder
- MC3R p.Gly17Asp Uncertain significance Single submitter
- MC3R p.Gly319Cys Uncertain significance Single submitter
- MC3R p.His20Arg Uncertain significance Single submitter
- MC3R p.His217Asn Uncertain significance Single submitter
- MC3R p.Ile146Asn Uncertain significance Single submitter
- MC3R p.Ile189Phe Uncertain significance Single submitter
- MC3R p.Ile50Thr Uncertain significance Single submitter
-
MC3R p.Ile57Thr
Uncertain significance
Single submitter
MC3R-related disorder
- MC3R p.Leu260Val Uncertain significance Single submitter
- MC3R p.Leu46Pro Uncertain significance Single submitter
- MC3R p.Met156Val Uncertain significance Single submitter
- MC3R p.Met200Thr Uncertain significance Single submitter
- MC3R p.Phe213Leu Uncertain significance Single submitter
-
MC3R p.Pro12Leu
Uncertain significance
Single submitter
OBESITY (BMIQ9), SUSCEPTIBILITY TO
- MC3R p.Pro232Ala Uncertain significance Single submitter
- MC3R p.Pro257His Uncertain significance Single submitter
- MC3R p.Ser27Arg Uncertain significance Single submitter
- MC3R p.Ser292Thr Uncertain significance Single submitter
- MC3R p.Ser47Thr Uncertain significance Single submitter
- MC3R p.Ser52Arg Uncertain significance Single submitter
- MC3R p.Thr157Ile Uncertain significance Single submitter
- MC3R p.Val174Ile Uncertain significance Single submitter
- MC3R p.Val174Phe Uncertain significance Single submitter
- MC3R p.Val218Ile Uncertain significance Single submitter
- MC3R p.Val230Met Uncertain significance Single submitter
- MC3R p.Val51Ala Uncertain significance Single submitter
- MC3R p.Val51Phe Uncertain significance Single submitter
-
MC3R p.Ala3Val
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Asn318Lys
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Asn68Lys
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Gln37Arg
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Gly240Arg
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Gly240Trp
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Gly319Ser
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Ile168Asn
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Leu212Val
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Leu224Pro
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Met73Ile
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Met97Ile
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Ser131Phe
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Ser9Cys
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Ser9Thr
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Tyr207Cys
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Val177Met
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Val250Gly
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Val87Ile
Uncertain significance
No assertion criteria
MC3R-related disorder
Predictors split 17
The independent predictors disagree with each other — read with care.
- MC3R p.Ala139Thr Uncertain significance Single submitter
- MC3R p.Ala149Val Uncertain significance Single submitter
- MC3R p.Arg215Trp Uncertain significance Single submitter
- MC3R p.Arg220Gly Uncertain significance Single submitter
- MC3R p.Asp121Tyr Uncertain significance Single submitter
- MC3R p.Glu43Lys Uncertain significance Single submitter
- MC3R p.Ile138Met Uncertain significance Single submitter
- MC3R p.Ile193Asn Uncertain significance Single submitter
- MC3R p.Phe45Ser Uncertain significance Single submitter
- MC3R p.Ser303Ile Uncertain significance Single submitter
- MC3R p.Ser30Arg Uncertain significance Single submitter
- MC3R p.Trp255Cys Uncertain significance Single submitter
-
MC3R p.Ala223Val
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Asn28Lys
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Cys315Arg
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.His209Tyr
Uncertain significance
No assertion criteria
MC3R-related disorder
-
MC3R p.Val63Met
Uncertain significance
No assertion criteria
MC3R-related disorder
All MC3R variants
Conflicting classifications of pathogenicity 2
- p.Ile298Ser Single submitter OBESITY (BMIQ9), SUSCEPTIBILITY TO
- p.Tyr143Ter Single submitter
Benign 4
- p.Val44Ile Multiple submitters
- p.Arg220Ser Single submitter
- p.Cys315= Single submitter
- p.Thr157= Single submitter
Likely benign 38
- p.Ile189= Multiple submitters
- p.Leu58= Multiple submitters
- p.Phe120= Single submitter
- p.Phe197= Single submitter
- p.Ser236= Single submitter
- p.Ser32= Single submitter
- p.Tyr143= Single submitter
- p.Tyr148= Single submitter
- p.Ala214= No assertion criteria MC3R-related disorder
- p.Ala256= No assertion criteria MC3R-related disorder
- p.Arg220= No assertion criteria MC3R-related disorder
- p.Arg302= No assertion criteria MC3R-related disorder
- p.Asn282= No assertion criteria MC3R-related disorder
- p.Asn318= No assertion criteria MC3R-related disorder
- p.Cys172= No assertion criteria MC3R-related disorder
- p.Gln22= No assertion criteria MC3R-related disorder
- p.Gly229= No assertion criteria MC3R-related disorder
- p.Gly249= No assertion criteria MC3R-related disorder
- p.His217= No assertion criteria MC3R-related disorder
- p.His235= No assertion criteria MC3R-related disorder
- p.Ile126= No assertion criteria MC3R-related disorder
- p.Leu106= No assertion criteria MC3R-related disorder
- p.Leu14= No assertion criteria MC3R-related disorder
- p.Leu164= No assertion criteria MC3R-related disorder
- p.Leu224= No assertion criteria MC3R-related disorder
- p.Lys239= No assertion criteria MC3R-related disorder
- p.Phe213= No assertion criteria MC3R-related disorder
- p.Pro15= No assertion criteria MC3R-related disorder
- p.Pro24= No assertion criteria MC3R-related disorder
- p.Pro257= No assertion criteria MC3R-related disorder
- p.Pro72= No assertion criteria MC3R-related disorder
- p.Ser127= No assertion criteria MC3R-related disorder
- p.Ser131= No assertion criteria MC3R-related disorder
- p.Ser185= No assertion criteria MC3R-related disorder
- p.Ser292= No assertion criteria MC3R-related disorder
- p.Ser32Cys No assertion criteria MC3R-related disorder
- p.Val140= No assertion criteria MC3R-related disorder
- p.Val51Leu No assertion criteria obesity disorder
Uncertain significance 90
- p.Leu106Val Multiple submitters ⚠
- p.Thr13Ala Multiple submitters ⚠
- p.Thr157Asn Multiple submitters ⚠
- p.Ala139Thr Single submitter ⚠
- p.Ala149Val Single submitter ⚠
- p.Ala198= Single submitter
- p.Ala214Glu Single submitter ⚠
- p.Ala222Pro Single submitter ⚠
- p.Ala92Ser Single submitter ⚠
- p.Arg142= Single submitter
- p.Arg215Trp Single submitter ⚠
- p.Arg220Gly Single submitter ⚠
- p.Arg302Gln Single submitter ⚠
- p.Arg311Thr Single submitter ⚠
- p.Asn91Ser Single submitter MC3R-related disorder ⚠
- p.Asp121Tyr Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Gly17Asp Single submitter ⚠
- p.Gly319Cys Single submitter ⚠
- p.His20Arg Single submitter ⚠
- p.His217Asn Single submitter ⚠
- p.Ile113= Single submitter
- p.Ile138Met Single submitter ⚠
- p.Ile146Asn Single submitter ⚠
- p.Ile189Phe Single submitter ⚠
- p.Ile193Asn Single submitter ⚠
- p.Ile288Met Single submitter
- p.Ile50Thr Single submitter ⚠
- p.Ile57Thr Single submitter MC3R-related disorder ⚠
- p.Leu260Val Single submitter ⚠
- p.Leu262Val Single submitter
- p.Leu46Pro Single submitter ⚠
- p.Met156Val Single submitter ⚠
- p.Met200Thr Single submitter ⚠
- p.Met320fs Single submitter
- p.Phe213Leu Single submitter ⚠
- p.Phe45Ser Single submitter ⚠
- p.Pro12Leu Single submitter OBESITY (BMIQ9), SUSCEPTIBILITY TO ⚠
- p.Pro232Ala Single submitter ⚠
- p.Pro257His Single submitter ⚠
- p.Pro269= Single submitter
- p.Ser27Arg Single submitter ⚠
- p.Ser292Thr Single submitter ⚠
- p.Ser303Ile Single submitter ⚠
- p.Ser30Arg Single submitter ⚠
- p.Ser4= Single submitter
- p.Ser47Thr Single submitter ⚠
- p.Ser52Arg Single submitter ⚠
- p.Ter324Ser Single submitter
- p.Thr157Ile Single submitter ⚠
- p.Trp255Cys Single submitter ⚠
- p.Trp255Ter Single submitter
- p.Val174Ile Single submitter ⚠
- p.Val174Phe Single submitter ⚠
- p.Val218Ile Single submitter ⚠
- p.Val230Met Single submitter ⚠
- p.Val51= Single submitter
- p.Val51Ala Single submitter ⚠
- p.Val51Phe Single submitter ⚠
- p.Ala223Val No assertion criteria MC3R-related disorder ⚠
- p.Ala3Val No assertion criteria MC3R-related disorder ⚠
- p.Asn118del No assertion criteria MC3R-related disorder
- p.Asn28Lys No assertion criteria MC3R-related disorder ⚠
- p.Asn318Lys No assertion criteria MC3R-related disorder ⚠
- p.Asn68Lys No assertion criteria MC3R-related disorder ⚠
- p.Cys315Arg No assertion criteria MC3R-related disorder ⚠
- p.Gln37Arg No assertion criteria MC3R-related disorder ⚠
- p.Gly240Arg No assertion criteria MC3R-related disorder ⚠
- p.Gly240Trp No assertion criteria MC3R-related disorder ⚠
- p.Gly319Ser No assertion criteria MC3R-related disorder ⚠
- p.His209Tyr No assertion criteria MC3R-related disorder ⚠
- p.Ile168Asn No assertion criteria MC3R-related disorder ⚠
- p.Leu212Val No assertion criteria MC3R-related disorder ⚠
- p.Leu224Pro No assertion criteria MC3R-related disorder ⚠
- p.Leu287del No assertion criteria MC3R-related disorder
- p.Met238Thr No assertion criteria MC3R-related disorder
- p.Met73Ile No assertion criteria MC3R-related disorder ⚠
- p.Met97Ile No assertion criteria MC3R-related disorder ⚠
- p.Ser131Phe No assertion criteria MC3R-related disorder ⚠
- p.Ser154Ile No assertion criteria MC3R-related disorder
- p.Ser9Cys No assertion criteria MC3R-related disorder ⚠
- p.Ser9Thr No assertion criteria MC3R-related disorder ⚠
- p.Ter324Gln No assertion criteria MC3R-related disorder
- p.Thr194Pro No assertion criteria MC3R-related disorder
- p.Tyr148fs No assertion criteria MC3R-related disorder
- p.Tyr207Cys No assertion criteria MC3R-related disorder ⚠
- p.Val177Met No assertion criteria MC3R-related disorder ⚠
- p.Val250Gly No assertion criteria MC3R-related disorder ⚠
- p.Val63Met No assertion criteria MC3R-related disorder ⚠
- p.Val87Ile No assertion criteria MC3R-related disorder ⚠