RBBP5 — 28 ClinVar variants
All ClinVar germline RBBP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
2 Pathogenic · 1 Benign/Likely benign · 4 Likely benign · 21 Uncertain significance
Full RBBP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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RBBP5 p.Thr232Ile
Pathogenic
Single submitter
RBBP5-related syndromic neurodevelopmental condition
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBBP5 p.Arg208Trp Uncertain significance Single submitter
- RBBP5 p.Arg220Gly Uncertain significance Single submitter
- RBBP5 p.Arg438Gly Uncertain significance Single submitter
- RBBP5 p.Arg508Gly Uncertain significance Single submitter
- RBBP5 p.Asn456Ser Uncertain significance Single submitter
- RBBP5 p.Asp381Glu Uncertain significance Single submitter
- RBBP5 p.Asp99Asn Uncertain significance Single submitter
- RBBP5 p.Cys258Gly Uncertain significance Single submitter
- RBBP5 p.Glu458Val Uncertain significance Single submitter
- RBBP5 p.Lys505Arg Uncertain significance Single submitter
- RBBP5 p.Met134Val Uncertain significance Single submitter
- RBBP5 p.Pro420Leu Uncertain significance Single submitter
- RBBP5 p.Pro501Gln Uncertain significance Single submitter
- RBBP5 p.Pro501Leu Uncertain significance Single submitter
- RBBP5 p.Ser138Thr Uncertain significance Single submitter
- RBBP5 p.Ser158Tyr Uncertain significance Single submitter
- RBBP5 p.Ser426Thr Uncertain significance Single submitter
- RBBP5 p.Thr168Met Uncertain significance Single submitter
- RBBP5 p.Thr198Ala Uncertain significance Single submitter
- RBBP5 p.Val41Ile Uncertain significance Single submitter
All RBBP5 variants
Pathogenic 2
- p.Thr232Ile Single submitter RBBP5-related syndromic neurodevelopmental condition ⚠
- p.Tyr401Ter Single submitter
Benign/Likely benign 1
- p.Pro146= Multiple submitters
Likely benign 4
- p.Ala271= Single submitter
- p.Ala522Val Single submitter
- p.Leu427= Single submitter
- p.Thr425= Single submitter
Uncertain significance 21
- p.Arg208Trp Single submitter ⚠
- p.Arg220Gly Single submitter ⚠
- p.Arg438Gly Single submitter ⚠
- p.Arg508Gly Single submitter ⚠
- p.Asn456Ser Single submitter ⚠
- p.Asp381Glu Single submitter ⚠
- p.Asp99Asn Single submitter ⚠
- p.Cys258Gly Single submitter ⚠
- p.Glu458Val Single submitter ⚠
- p.Lys505Arg Single submitter ⚠
- p.Met134Val Single submitter ⚠
- p.Pro420Leu Single submitter ⚠
- p.Pro501Gln Single submitter ⚠
- p.Pro501Leu Single submitter ⚠
- p.Ser138Thr Single submitter ⚠
- p.Ser158Tyr Single submitter ⚠
- p.Ser426Thr Single submitter ⚠
- p.Thr168Met Single submitter ⚠
- p.Thr198Ala Single submitter ⚠
- p.Trp74Ter Single submitter
- p.Val41Ile Single submitter ⚠