Sugi Variant

Sugi Variant/BRPF1

BRPF1 — 493 ClinVar variants

All ClinVar germline BRPF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 302 flagged for review →

60 Pathogenic · 3 Pathogenic/Likely pathogenic · 32 Likely pathogenic · 7 Conflicting · 10 Benign · 4 Benign/Likely benign · 85 Likely benign · 292 Uncertain significance

Full BRPF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 302

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 3

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 169

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 169

Predictors split 125

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

All BRPF1 variants

Pathogenic 60

  • p.Ala396fs Multiple submitters intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Arg251Ter Multiple submitters Inborn genetic diseases
  • p.Arg455Ter Multiple submitters Inborn genetic diseases
  • p.Gln807fs Multiple submitters intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Lys820fs Multiple submitters Inborn genetic diseases
  • p.Met295fs Multiple submitters Inborn genetic diseases
  • p.Pro933fs Multiple submitters intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Ala856delinsGlyTer Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Arg1116Ter Single submitter
  • p.Arg200fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Arg29Ter Single submitter
  • p.Arg593fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Arg811fs Single submitter Inborn genetic diseases
  • p.Arg813fs Single submitter Inborn genetic diseases
  • p.Arg833Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Asn132fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Asn782fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Asp187fs Single submitter
  • p.Asp190fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Asp770fs Single submitter Inborn genetic diseases
  • p.Asp865fs Single submitter
  • p.Cys515fs Single submitter
  • p.Gln302Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln314Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln322Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln67Ter Single submitter
  • p.Gln686Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln924Ter Single submitter Inborn genetic diseases
  • p.Gln96Ter Single submitter
  • p.Gln985Ter Single submitter
  • p.Glu1008Ter Single submitter Inborn genetic diseases
  • p.Glu472fs Single submitter Inborn genetic diseases
  • p.Gly1051Asp Single submitter intellectual developmental disorder with dysmorphic facies and ptosis ⚠
  • p.Gly264fs Single submitter BRPF1-related disorder
  • p.Gly306fs Single submitter Inborn genetic diseases
  • p.Gly752fs Single submitter
  • p.His164fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Lys585fs Single submitter
  • p.Lys676Arg Single submitter intellectual developmental disorder with dysmorphic facies and ptosis ⚠
  • p.Lys949fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Met1Ile Single submitter
  • p.Phe10fs Single submitter Inborn genetic diseases
  • p.Phe367_Leu368insTer Single submitter
  • p.Ser928fs Single submitter Inborn genetic diseases
  • p.Thr434fs Single submitter
  • p.Trp315Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Trp348Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Trp582Ter Single submitter Inborn genetic diseases
  • p.Tyr309fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Tyr406Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Tyr691Ter Single submitter Inborn genetic diseases
  • p.Val351fs Single submitter intellectual disability
  • p.Asp1006_Ser1007insTer No assertion criteria intellectual disability
  • p.Cys389Arg No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln186Ter No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Glu121fs No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Pro370Ser No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Tyr35Ter No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Tyr994Ter No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Val438fs No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis

Pathogenic/Likely pathogenic 3

  • p.Arg1100Ter Multiple submitters intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Glu235fs Multiple submitters
  • p.Trp478Ter Multiple submitters intellectual developmental disorder with dysmorphic facies and ptosis

Likely pathogenic 32

  • p.Phe1154del Multiple submitters Inborn genetic diseases
  • c.1559+1G>A Single submitter
  • c.2311+1G>A Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • c.2921-2A>C Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • c.3068+1G>T Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • c.3069-1G>A Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Ala1197Thr Single submitter
  • p.Arg347fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Arg995His Single submitter ⚠
  • p.Asp670His Single submitter
  • p.Asp800fs Single submitter
  • p.Cys400Tyr Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln538Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln623Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln947Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Glu1008fs Single submitter BRPF1-related disorder
  • p.Glu208fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Glu689fs Single submitter neurodevelopmental disorder
  • p.Ile755fs Single submitter BRPF1-related disorder
  • p.Ile941fs Single submitter
  • p.Leu1089fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Leu556Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Met1Arg Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Phe653fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Pro518fs Single submitter
  • p.Pro936fs Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Val300Met Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Val668_Pro669insTer Single submitter intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Val934fs Single submitter
  • p.Cys23Arg No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Gln587Ter No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Tyr387fs No assertion criteria intellectual developmental disorder with dysmorphic facies and ptosis

Conflicting classifications of pathogenicity 7

  • p.Arg318His Single submitter Inborn genetic diseases ⚠
  • p.Arg600Ter Single submitter intellectual developmental disorder with dysmorphic facies and ptosis ⚠
  • p.Arg66Cys Single submitter intellectual developmental disorder with dysmorphic facies and ptosis ⚠
  • p.Arg740His Single submitter intellectual developmental disorder with dysmorphic facies and ptosis ⚠
  • p.Gln938fs Single submitter Inborn genetic diseases ⚠
  • p.His461Arg Single submitter Inborn genetic diseases ⚠
  • p.Ser169Cys Single submitter Inborn genetic diseases ⚠

Benign 10

Benign/Likely benign 4

  • c.3069-4A>T Multiple submitters Inborn genetic diseases
  • p.Arg848Gln Multiple submitters Inborn genetic diseases
  • p.Tyr21= Multiple submitters intellectual developmental disorder with dysmorphic facies and ptosis
  • p.Val118= Multiple submitters

Likely benign 85

Uncertain significance 292