RAC2 — 196 ClinVar variants
All ClinVar germline RAC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
3 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 3 Benign · 5 Benign/Likely benign · 103 Likely benign · 76 Uncertain significance
Full RAC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
RAC2 p.Ala188Thr
Conflicting
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Thr182Met
Conflicting
Single submitter
neutrophil immunodeficiency syndrome
Predictors lean, ClinVar uncertain 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RAC2 p.Ala95Thr
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg120Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAC2 p.Arg174Trp
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg66His
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Asp63Asn
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Cys18Trp
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Ile110Val
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Thr75Met
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Val14Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
RAC2 p.Ala135Ser
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Ala59Ser
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg102Trp
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg174Gln
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg183Gln
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg187His
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Asn92Lys
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Asp121Glu
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
- RAC2 p.Asp47Val Uncertain significance Single submitter
- RAC2 p.Gln185His Uncertain significance Single submitter
- RAC2 p.Gln61His Uncertain significance Single submitter
-
RAC2 p.Glu100Lys
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Glu156Gln
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Glu171Lys
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Gly114Arg
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Gly15Asp
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Gly30Arg
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Ile111Val
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Ile173Leu
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
- RAC2 p.Ile21Ser Uncertain significance Single submitter
-
RAC2 p.Ile4Val
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Ile80Thr
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Leu79Pro
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Lys116Arg
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Phe169Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAC2 p.Phe78Cys
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Pro106Arg
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Pro34Arg
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Pro69Leu
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Pro87Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
RAC2 p.Pro99Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- RAC2 p.Ser107Gly Uncertain significance Single submitter
-
RAC2 p.Ser151Leu
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Ser151Trp
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Ser190Thr
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Thr182Ala
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Tyr32Ser
Uncertain significance
Single submitter
immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
-
RAC2 p.Val168Ala
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg68Gln
Uncertain significance
No assertion criteria
neutrophil immunodeficiency syndrome
Predictors split 17
The independent predictors disagree with each other — read with care.
-
RAC2 p.Arg183Trp
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg68Trp
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Leu191Phe
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Val77Ile
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
-
RAC2 p.Val93Ile
Uncertain significance
Multiple submitters
neutrophil immunodeficiency syndrome
- RAC2 p.Ala27Thr Uncertain significance Single submitter
-
RAC2 p.Arg102Gln
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg187Cys
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Arg94His
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Asp124Gly
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Glu127Lys
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Glu31Asp
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Leu117Met
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Leu192Phe
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
-
RAC2 p.Lys16Arg
Uncertain significance
Single submitter
neutrophil immunodeficiency syndrome
- RAC2 p.Pro106Ala Uncertain significance Single submitter
- RAC2 p.Val85Ile Uncertain significance Single submitter
All RAC2 variants
Pathogenic 3
- p.Asp57Asn Single submitter neutrophil immunodeficiency syndrome
- p.Asn92Thr No assertion criteria immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
- p.Trp56Ter No assertion criteria immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia
Pathogenic/Likely pathogenic 1
- p.Glu62Lys Multiple submitters immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
Likely pathogenic 3
- p.Gln61Lys Single submitter neutrophil immunodeficiency syndrome
- p.Pro29His Single submitter
- p.Pro34His Single submitter neutrophil immunodeficiency syndrome
Conflicting classifications of pathogenicity 2
- p.Ala188Thr Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Thr182Met Single submitter neutrophil immunodeficiency syndrome ⚠
Benign 3
- p.Leu84= Multiple submitters neutrophil immunodeficiency syndrome
- c.226-111T>C Single submitter
- c.449-1206A>G Single submitter
Benign/Likely benign 5
- c.107+20T>C Multiple submitters neutrophil immunodeficiency syndrome
- c.226-21dup Multiple submitters neutrophil immunodeficiency syndrome
- c.35+16G>A Multiple submitters neutrophil immunodeficiency syndrome
- c.449-18G>T Multiple submitters neutrophil immunodeficiency syndrome
- p.Ala159= Multiple submitters neutrophil immunodeficiency syndrome
Likely benign 103
- c.108-20G>A Multiple submitters neutrophil immunodeficiency syndrome
- c.226-16C>T Multiple submitters neutrophil immunodeficiency syndrome
- c.226-17G>A Multiple submitters neutrophil immunodeficiency syndrome
- c.226-18C>T Multiple submitters neutrophil immunodeficiency syndrome
- c.449-6A>G Multiple submitters neutrophil immunodeficiency syndrome
- p.Arg187= Multiple submitters neutrophil immunodeficiency syndrome
- p.Arg94= Multiple submitters neutrophil immunodeficiency syndrome
- p.Asp121= Multiple submitters neutrophil immunodeficiency syndrome
- p.Asp170= Multiple submitters neutrophil immunodeficiency syndrome
- p.Lys49= Multiple submitters neutrophil immunodeficiency syndrome
- p.Phe169= Multiple submitters neutrophil immunodeficiency syndrome
- p.Pro29= Multiple submitters Inborn genetic diseases
- p.Pro69= Multiple submitters neutrophil immunodeficiency syndrome
- p.Thr182= Multiple submitters neutrophil immunodeficiency syndrome
- p.Thr35= Multiple submitters neutrophil immunodeficiency syndrome
- p.Tyr64= Multiple submitters neutrophil immunodeficiency syndrome
- c.107+14G>T Single submitter neutrophil immunodeficiency syndrome
- c.108-11G>A Single submitter neutrophil immunodeficiency syndrome
- c.108-14C>A Single submitter neutrophil immunodeficiency syndrome
- c.108-19C>T Single submitter neutrophil immunodeficiency syndrome
- c.108-5C>G Single submitter neutrophil immunodeficiency syndrome
- c.108-5C>T Single submitter neutrophil immunodeficiency syndrome
- c.108-7C>T Single submitter neutrophil immunodeficiency syndrome
- c.225+13C>T Single submitter neutrophil immunodeficiency syndrome
- c.225+16C>T Single submitter neutrophil immunodeficiency syndrome
- c.225+19C>T Single submitter neutrophil immunodeficiency syndrome
- c.226-10C>G Single submitter neutrophil immunodeficiency syndrome
- c.226-10C>T Single submitter neutrophil immunodeficiency syndrome
- c.226-12C>T Single submitter neutrophil immunodeficiency syndrome
- c.226-13G>T Single submitter neutrophil immunodeficiency syndrome
- c.226-14T>C Single submitter neutrophil immunodeficiency syndrome
- c.226-15T>C Single submitter neutrophil immunodeficiency syndrome
- c.226-18C>G Single submitter neutrophil immunodeficiency syndrome
- c.226-19_226-17del Single submitter neutrophil immunodeficiency syndrome
- c.288+10A>G Single submitter neutrophil immunodeficiency syndrome
- c.288+11C>T Single submitter neutrophil immunodeficiency syndrome
- c.288+11del Single submitter neutrophil immunodeficiency syndrome
- c.288+14G>T Single submitter neutrophil immunodeficiency syndrome
- c.288+15G>A Single submitter neutrophil immunodeficiency syndrome
- c.288+15G>C Single submitter neutrophil immunodeficiency syndrome
- c.288+16T>C Single submitter neutrophil immunodeficiency syndrome
- c.289-18C>T Single submitter neutrophil immunodeficiency syndrome
- c.289-6G>T Single submitter neutrophil immunodeficiency syndrome
- c.35+15G>T Single submitter neutrophil immunodeficiency syndrome
- c.35+16G>C Single submitter neutrophil immunodeficiency syndrome
- c.35+18C>T Single submitter neutrophil immunodeficiency syndrome
- c.35+20T>A Single submitter neutrophil immunodeficiency syndrome
- c.35+20T>C Single submitter neutrophil immunodeficiency syndrome
- c.35+20T>G Single submitter neutrophil immunodeficiency syndrome
- c.36-10T>C Single submitter
- c.36-11C>T Single submitter neutrophil immunodeficiency syndrome
- c.36-16A>G Single submitter neutrophil immunodeficiency syndrome
- c.36-17C>T Single submitter neutrophil immunodeficiency syndrome
- c.36-18G>A Single submitter neutrophil immunodeficiency syndrome
- c.36-6T>C Single submitter neutrophil immunodeficiency syndrome
- c.448+14G>A Single submitter neutrophil immunodeficiency syndrome
- c.449-15C>T Single submitter neutrophil immunodeficiency syndrome
- c.449-9C>T Single submitter neutrophil immunodeficiency syndrome
- p.Ala13= Single submitter neutrophil immunodeficiency syndrome
- p.Ala175= Single submitter neutrophil immunodeficiency syndrome
- p.Ala27= Single submitter neutrophil immunodeficiency syndrome
- p.Ala88= Single submitter neutrophil immunodeficiency syndrome
- p.Arg102= Single submitter neutrophil immunodeficiency syndrome
- p.Arg174= Single submitter neutrophil immunodeficiency syndrome
- p.Arg183= Single submitter neutrophil immunodeficiency syndrome
- p.Asn26= Single submitter neutrophil immunodeficiency syndrome
- p.Asn52= Single submitter neutrophil immunodeficiency syndrome
- p.Asn92= Single submitter neutrophil immunodeficiency syndrome
- p.Asp122Asn Single submitter neutrophil immunodeficiency syndrome
- p.Asp150= Single submitter neutrophil immunodeficiency syndrome
- p.Asp47= Single submitter neutrophil immunodeficiency syndrome
- p.Asp57= Single submitter
- p.Asp76= Single submitter neutrophil immunodeficiency syndrome
- p.Cys18= Single submitter neutrophil immunodeficiency syndrome
- p.Cys189= Single submitter neutrophil immunodeficiency syndrome
- p.Cys81= Single submitter neutrophil immunodeficiency syndrome
- p.Gln61= Single submitter neutrophil immunodeficiency syndrome
- p.Glu171= Single submitter neutrophil immunodeficiency syndrome
- p.Glu62= Single submitter neutrophil immunodeficiency syndrome
- p.Gly15= Single submitter neutrophil immunodeficiency syndrome
- p.Gly54= Single submitter neutrophil immunodeficiency syndrome
- p.His103= Single submitter neutrophil immunodeficiency syndrome
- p.Ile111= Single submitter neutrophil immunodeficiency syndrome
- p.Ile126= Single submitter neutrophil immunodeficiency syndrome
- p.Ile137= Single submitter neutrophil immunodeficiency syndrome
- p.Leu112= Single submitter neutrophil immunodeficiency syndrome
- p.Leu79= Single submitter neutrophil immunodeficiency syndrome
- p.Lys116= Single submitter neutrophil immunodeficiency syndrome
- p.Lys123= Single submitter neutrophil immunodeficiency syndrome
- p.Lys133= Single submitter
- p.Pro34= Single submitter neutrophil immunodeficiency syndrome
- p.Pro87= Single submitter neutrophil immunodeficiency syndrome
- p.Ser158= Single submitter neutrophil immunodeficiency syndrome
- p.Ser190= Single submitter neutrophil immunodeficiency syndrome
- p.Ser83= Single submitter neutrophil immunodeficiency syndrome
- p.Ser86= Single submitter neutrophil immunodeficiency syndrome
- p.Ter193= Single submitter neutrophil immunodeficiency syndrome
- p.Thr161= Single submitter neutrophil immunodeficiency syndrome
- p.Thr167= Single submitter neutrophil immunodeficiency syndrome
- p.Thr25= Single submitter neutrophil immunodeficiency syndrome
- p.Val176= Single submitter neutrophil immunodeficiency syndrome
- c.226-4C>A No assertion criteria RAC2-related disorder
- p.Ser151= No assertion criteria RAC2-related disorder
Uncertain significance 76
- p.Ala95Thr Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Arg120Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg174Trp Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Arg183Trp Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Arg66His Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Arg68Trp Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Asp63Asn Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Cys18Trp Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Ile110Val Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Ile33Val Multiple submitters immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia
- p.Leu191Phe Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Thr75Met Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Val14Met Multiple submitters Inborn genetic diseases ⚠
- p.Val77Ile Multiple submitters neutrophil immunodeficiency syndrome ⚠
- p.Val93Ile Multiple submitters neutrophil immunodeficiency syndrome ⚠
- c.108-8C>G Single submitter neutrophil immunodeficiency syndrome
- c.226-9T>G Single submitter
- c.288+3G>C Single submitter neutrophil immunodeficiency syndrome
- c.289-3C>T Single submitter neutrophil immunodeficiency syndrome
- c.449-3C>T Single submitter neutrophil immunodeficiency syndrome
- c.-830C>T Single submitter
- c.*3-2A>C Single submitter
- p.Ala135Ser Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Ala27Thr Single submitter ⚠
- p.Ala59Ser Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Arg102Gln Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Arg102Trp Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Arg163Ter Single submitter
- p.Arg174Gln Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Arg183Gln Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Arg187Cys Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Arg187His Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Arg94His Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Asn92Lys Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Asp121Glu Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Asp124Gly Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Asp47Val Single submitter ⚠
- p.Gln185His Single submitter ⚠
- p.Gln61His Single submitter ⚠
- p.Glu100Lys Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Glu127Lys Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Glu156Gln Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Glu171Lys Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Glu31Asp Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Gly114Arg Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Gly15Asp Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Gly30Arg Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Ile111Val Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Ile173Leu Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Ile21Ser Single submitter ⚠
- p.Ile4Val Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Ile80Thr Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Leu117Met Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Leu192Phe Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Leu79Pro Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Lys116Arg Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Lys16Arg Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Phe169Leu Single submitter Inborn genetic diseases ⚠
- p.Phe78Cys Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Pro106Ala Single submitter ⚠
- p.Pro106Arg Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Pro34Arg Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Pro69Leu Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Pro87Ser Single submitter Inborn genetic diseases ⚠
- p.Pro99Leu Single submitter Inborn genetic diseases ⚠
- p.Ser107Gly Single submitter ⚠
- p.Ser151Leu Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Ser151Trp Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Ser190Thr Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Thr182Ala Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Thr75= Single submitter neutrophil immunodeficiency syndrome
- p.Tyr32Ser Single submitter immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia ⚠
- p.Val168Ala Single submitter neutrophil immunodeficiency syndrome ⚠
- p.Val85Ile Single submitter ⚠
- c.225+1G>A No assertion criteria prostate cancer
- p.Arg68Gln No assertion criteria neutrophil immunodeficiency syndrome ⚠