ATP5MC2 — 25 ClinVar variants

All ClinVar germline ATP5MC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →

2 Likely benign · 23 Uncertain significance

Full ATP5MC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 15

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 4

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 11

The independent predictors disagree with each other — read with care.

All ATP5MC2 variants

Likely benign 2

p.Arg104= Single submitter
p.Cys48Arg Single submitter

Uncertain significance 23

c.-14C>T Single submitter
c.-42A>G Single submitter
c.-51C>G Single submitter
c.-60C>T Single submitter
c.-9C>T Single submitter
p.Arg23His Single submitter ⚠
p.Arg34Gly Single submitter
p.Asp69Asn Single submitter ⚠
p.Cys35Phe Single submitter
p.Cys4Tyr Single submitter ⚠
p.Gly90Glu Single submitter ⚠
p.Ile64Thr Single submitter ⚠
p.Leu108Val Single submitter ⚠
p.Leu50Phe Single submitter ⚠
p.Met126Leu Single submitter ⚠
p.Pro11Ser Single submitter ⚠
p.Pro24Leu Single submitter ⚠
p.Ser29Tyr Single submitter
p.Ser42Arg Single submitter ⚠
p.Ser42Gly Single submitter ⚠
p.Ser43Gly Single submitter ⚠
p.Ser52Leu Single submitter ⚠
p.Val46Phe Single submitter ⚠