MDM4 — 58 ClinVar variants

All ClinVar germline MDM4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →

1 Conflicting · 3 Benign · 2 Benign/Likely benign · 6 Likely benign · 46 Uncertain significance

Full MDM4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 44

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

MDM4 p.Lys374Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 40

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

Predictors split 3

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

MDM4 p.Pro32Leu Likely benign Single submitter
MDM4 p.Thr234Ile Uncertain significance Single submitter
MDM4 p.Thr454Met Uncertain significance Single submitter
bone marrow failure syndrome 6

All MDM4 variants

Conflicting classifications of pathogenicity 1

p.Lys374Gln Single submitter ⚠

Benign 3

p.Glu303= Multiple submitters
p.Lys468= Multiple submitters
c.343+9C>T Single submitter

Benign/Likely benign 2

c.511+5G>A Multiple submitters
p.Val74= Multiple submitters

Likely benign 6

c.343+4T>C Single submitter
p.Ala376Val Single submitter
p.Met410Thr Single submitter
p.Pro32= Single submitter
p.Pro32Leu Single submitter ⚠
p.Val359= Single submitter

Uncertain significance 46

p.Ala179Gly Multiple submitters bone marrow failure syndrome 6 ⚠
p.Ala398Val Single submitter ⚠
p.Ala470Ser Single submitter ⚠
p.Ala470Val Single submitter ⚠
p.Ala490Thr Single submitter ⚠
p.Arg363fs Single submitter
p.Arg372Ile Single submitter ⚠
p.Asn209Ser Single submitter ⚠
p.Asn426Thr Single submitter ⚠
p.Asp181Gly Single submitter ⚠
p.Asp333Asn Single submitter ⚠
p.Gln133Glu Single submitter ⚠
p.Gln413Arg Single submitter ⚠
p.Gln431Glu Single submitter ⚠
p.Gln482His Single submitter ⚠
p.Gln88His Single submitter ⚠
p.Glu170Gly Single submitter ⚠
p.Glu191Ala Single submitter
p.Glu256Asp Single submitter ⚠
p.Glu412Lys Single submitter ⚠
p.Glu419Gln Single submitter ⚠
p.Gly250Asp Single submitter ⚠
p.Gly356Arg Single submitter
p.His126Pro Single submitter ⚠
p.Ile349Val Single submitter bone marrow failure syndrome 6 ⚠
p.Leu31fs Single submitter bone marrow failure syndrome 6
p.Leu80Phe Single submitter ⚠
p.Lys280Asn Single submitter ⚠
p.Lys336Glu Single submitter ⚠
p.Lys379Gln Single submitter ⚠
p.Lys478Glu Single submitter ⚠
p.Pro315Leu Single submitter ⚠
p.Ser161Leu Single submitter ⚠
p.Ser383Pro Single submitter bone marrow failure syndrome 6 ⚠
p.Ser400Arg Single submitter ⚠
p.Ser418Pro Single submitter ⚠
p.Thr183Pro Single submitter ⚠
p.Thr234Ile Single submitter ⚠
p.Thr260Ala Single submitter ⚠
p.Thr299Ile Single submitter ⚠
p.Thr307Ile Single submitter ⚠
p.Thr422Arg Single submitter ⚠
p.Thr454Met Single submitter bone marrow failure syndrome 6 ⚠
p.Val245Ala Single submitter ⚠
p.Val275Leu Single submitter ⚠
p.Val296Ala Single submitter ⚠