MC5R — 56 ClinVar variants
All ClinVar germline MC5R variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
1 Benign · 4 Likely benign · 51 Uncertain significance
Full MC5R gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- MC5R p.Ala225Thr Uncertain significance Single submitter
- MC5R p.Ala318Thr Uncertain significance Single submitter
- MC5R p.Arg112Cys Uncertain significance Single submitter
- MC5R p.Arg157Ser Uncertain significance Single submitter
- MC5R p.Arg229Pro Uncertain significance Single submitter
- MC5R p.Arg272His Uncertain significance Single submitter
- MC5R p.Arg323Thr Uncertain significance Single submitter
- MC5R p.Asn54Ser Uncertain significance Single submitter
- MC5R p.Cys270Ser Uncertain significance Single submitter
- MC5R p.Cys286Phe Uncertain significance Single submitter
- MC5R p.Cys286Tyr Uncertain significance Single submitter
- MC5R p.Gly172Ser Uncertain significance Single submitter
- MC5R p.Gly224Trp Uncertain significance Single submitter
- MC5R p.His207Tyr Uncertain significance Single submitter
- MC5R p.His257Tyr Uncertain significance Single submitter
- MC5R p.Ile114Thr Uncertain significance Single submitter
- MC5R p.Leu188Pro Uncertain significance Single submitter
- MC5R p.Met36Thr Uncertain significance Single submitter
- MC5R p.Pro223Ala Uncertain significance Single submitter
- MC5R p.Pro292Ser Uncertain significance Single submitter
- MC5R p.Ser226Gly Uncertain significance Single submitter
- MC5R p.Ser227Phe Uncertain significance Single submitter
- MC5R p.Ser275Cys Uncertain significance Single submitter
- MC5R p.Ser89Gly Uncertain significance Single submitter
- MC5R p.Thr155Ala Uncertain significance Single submitter
- MC5R p.Thr171Met Uncertain significance Single submitter
- MC5R p.Thr171Ser Uncertain significance Single submitter
- MC5R p.Thr184Ile Uncertain significance Single submitter
- MC5R p.Thr241Ser Uncertain significance Single submitter
- MC5R p.Tyr295His Uncertain significance Single submitter
- MC5R p.Val117Met Uncertain significance Single submitter
- MC5R p.Val126Ala Uncertain significance Single submitter
- MC5R p.Val138Leu Uncertain significance Single submitter
- MC5R p.Val142Ile Uncertain significance Single submitter
- MC5R p.Val142Leu Uncertain significance Single submitter
- MC5R p.Val240Ile Uncertain significance Single submitter
- MC5R p.Val249Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- MC5R p.Arg158Cys Uncertain significance Multiple submitters
- MC5R p.Arg218Trp Uncertain significance Single submitter
- MC5R p.Asp115Glu Uncertain significance Single submitter
- MC5R p.Gly245Cys Uncertain significance Single submitter
- MC5R p.Ser132Thr Uncertain significance Single submitter
- MC5R p.Ser69Phe Uncertain significance Single submitter
- MC5R p.Ser88Phe Uncertain significance Single submitter
- MC5R p.Thr171Lys Uncertain significance Single submitter
- MC5R p.Thr93Pro Uncertain significance Single submitter
- MC5R p.Tyr269Cys Uncertain significance Single submitter
All MC5R variants
Benign 1
- p.Ser125= Multiple submitters
Likely benign 4
- p.Ala196Thr Single submitter
- p.Arg313His Single submitter
- p.Asn25Ser Single submitter
- p.Leu262Ile Single submitter
Uncertain significance 51
- p.Arg158Cys Multiple submitters ⚠
- p.Ala225Thr Single submitter ⚠
- p.Ala318Thr Single submitter ⚠
- p.Arg112Cys Single submitter ⚠
- p.Arg157Ser Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg229Pro Single submitter ⚠
- p.Arg272His Single submitter ⚠
- p.Arg323Thr Single submitter ⚠
- p.Asn54Ser Single submitter ⚠
- p.Asp115Glu Single submitter ⚠
- p.Cys250Phe Single submitter
- p.Cys270Ser Single submitter ⚠
- p.Cys286Phe Single submitter ⚠
- p.Cys286Tyr Single submitter ⚠
- p.Gly172Ser Single submitter ⚠
- p.Gly224Trp Single submitter ⚠
- p.Gly245Cys Single submitter ⚠
- p.His207Tyr Single submitter ⚠
- p.His257Tyr Single submitter ⚠
- p.Ile114Asn Single submitter
- p.Ile114Thr Single submitter ⚠
- p.Ile187Thr Single submitter
- p.Ile282Thr Single submitter
- p.Leu188Pro Single submitter ⚠
- p.Met36Thr Single submitter ⚠
- p.Pro223Ala Single submitter ⚠
- p.Pro292Ser Single submitter ⚠
- p.Ser132Thr Single submitter ⚠
- p.Ser226Gly Single submitter ⚠
- p.Ser227Phe Single submitter ⚠
- p.Ser275Cys Single submitter ⚠
- p.Ser69Phe Single submitter ⚠
- p.Ser88Phe Single submitter ⚠
- p.Ser89Gly Single submitter ⚠
- p.Thr155Ala Single submitter ⚠
- p.Thr171Lys Single submitter ⚠
- p.Thr171Met Single submitter ⚠
- p.Thr171Ser Single submitter ⚠
- p.Thr184Ile Single submitter ⚠
- p.Thr241Ser Single submitter ⚠
- p.Thr93Pro Single submitter ⚠
- p.Tyr269Cys Single submitter ⚠
- p.Tyr295His Single submitter ⚠
- p.Val117Met Single submitter ⚠
- p.Val126Ala Single submitter ⚠
- p.Val138Leu Single submitter ⚠
- p.Val142Ile Single submitter ⚠
- p.Val142Leu Single submitter ⚠
- p.Val240Ile Single submitter ⚠
- p.Val249Met Single submitter ⚠