PACSIN2 — 57 ClinVar variants
All ClinVar germline PACSIN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
2 Likely benign · 55 Uncertain significance
Full PACSIN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PACSIN2 p.Ala279Val Uncertain significance Single submitter
- PACSIN2 p.Ala484Val Uncertain significance Single submitter
- PACSIN2 p.Ala85Thr Uncertain significance Single submitter
- PACSIN2 p.Arg240Cys Uncertain significance Single submitter
- PACSIN2 p.Arg30Trp Uncertain significance Single submitter
- PACSIN2 p.Asn330Thr Uncertain significance Single submitter
- PACSIN2 p.Asn413Ser Uncertain significance Single submitter
- PACSIN2 p.Asp216Asn Uncertain significance Single submitter
- PACSIN2 p.Asp307His Uncertain significance Single submitter
- PACSIN2 p.Asp420Asn Uncertain significance Single submitter
- PACSIN2 p.Asp421Asn Uncertain significance Single submitter
- PACSIN2 p.Gln331Glu Uncertain significance Single submitter
- PACSIN2 p.Glu316Asp Uncertain significance Single submitter
- PACSIN2 p.Glu389Lys Uncertain significance Single submitter
- PACSIN2 p.Glu441Lys Uncertain significance Single submitter
- PACSIN2 p.Gly137Ser Uncertain significance Single submitter
- PACSIN2 p.Gly22Arg Uncertain significance Single submitter
- PACSIN2 p.Gly323Ser Uncertain significance Single submitter
- PACSIN2 p.Gly77Arg Uncertain significance Single submitter
- PACSIN2 p.Leu337Arg Uncertain significance Single submitter
- PACSIN2 p.Lys129Arg Uncertain significance Single submitter
- PACSIN2 p.Lys157Arg Uncertain significance Single submitter
- PACSIN2 p.Lys207Arg Uncertain significance Single submitter
- PACSIN2 p.Lys319Thr Uncertain significance Single submitter
- PACSIN2 p.Lys383Arg Uncertain significance Single submitter
- PACSIN2 p.Lys81Arg Uncertain significance Single submitter
- PACSIN2 p.Met105Lys Uncertain significance Single submitter
- PACSIN2 p.Pro338Leu Uncertain significance Single submitter
- PACSIN2 p.Ser375Thr Uncertain significance Single submitter
- PACSIN2 p.Ser416Leu Uncertain significance Single submitter
- PACSIN2 p.Ser425Leu Uncertain significance Single submitter
- PACSIN2 p.Thr327Met Uncertain significance Single submitter
- PACSIN2 p.Thr410Met Uncertain significance Single submitter
- PACSIN2 p.Thr78Ile Uncertain significance Single submitter
- PACSIN2 p.Tyr24His Uncertain significance Single submitter
- PACSIN2 p.Tyr394Cys Uncertain significance Single submitter
- PACSIN2 p.Val260Ala Uncertain significance Single submitter
- PACSIN2 p.Val79Leu Uncertain significance Single submitter
- PACSIN2 p.Val9Ile Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PACSIN2 p.Ala85Asp Uncertain significance Single submitter
- PACSIN2 p.Arg468Cys Uncertain significance Single submitter
- PACSIN2 p.Arg468His Uncertain significance Single submitter
- PACSIN2 p.Asp397Tyr Uncertain significance Single submitter
- PACSIN2 p.Glu365Lys Uncertain significance Single submitter
- PACSIN2 p.Glu459Lys Uncertain significance Single submitter
- PACSIN2 p.Gly127Ser Uncertain significance Single submitter
- PACSIN2 p.Leu187Pro Uncertain significance Single submitter
- PACSIN2 p.Lys319Glu Uncertain significance Single submitter
- PACSIN2 p.Met87Thr Uncertain significance Single submitter
- PACSIN2 p.Ser15Asn Uncertain significance Single submitter
- PACSIN2 p.Val429Ala Uncertain significance Single submitter
-
PACSIN2 p.Thr454Ser
Uncertain significance
No assertion criteria
myoepithelial tumor
All PACSIN2 variants
Likely benign 2
- p.Asp136= Single submitter
- p.Lys264Thr Single submitter
Uncertain significance 55
- p.Ala279Val Single submitter ⚠
- p.Ala484Val Single submitter ⚠
- p.Ala85Asp Single submitter ⚠
- p.Ala85Thr Single submitter ⚠
- p.Arg240Cys Single submitter ⚠
- p.Arg30Trp Single submitter ⚠
- p.Arg432Trp Single submitter
- p.Arg468Cys Single submitter ⚠
- p.Arg468His Single submitter ⚠
- p.Asn330Thr Single submitter ⚠
- p.Asn413Ser Single submitter ⚠
- p.Asp216Asn Single submitter ⚠
- p.Asp307His Single submitter ⚠
- p.Asp397Tyr Single submitter ⚠
- p.Asp420Asn Single submitter ⚠
- p.Asp421Asn Single submitter ⚠
- p.Gln331Glu Single submitter ⚠
- p.Glu316Asp Single submitter ⚠
- p.Glu365Lys Single submitter ⚠
- p.Glu389Lys Single submitter ⚠
- p.Glu441Lys Single submitter ⚠
- p.Glu452Gly Single submitter
- p.Glu459Lys Single submitter ⚠
- p.Gly127Ser Single submitter ⚠
- p.Gly137Ser Single submitter ⚠
- p.Gly22Arg Single submitter ⚠
- p.Gly323Ser Single submitter ⚠
- p.Gly77Arg Single submitter ⚠
- p.Leu187Pro Single submitter ⚠
- p.Leu337Arg Single submitter ⚠
- p.Lys129Arg Single submitter ⚠
- p.Lys157Arg Single submitter ⚠
- p.Lys207Arg Single submitter ⚠
- p.Lys319Glu Single submitter ⚠
- p.Lys319Thr Single submitter ⚠
- p.Lys383Arg Single submitter ⚠
- p.Lys81Arg Single submitter ⚠
- p.Met105Lys Single submitter ⚠
- p.Met87Thr Single submitter ⚠
- p.Pro338Leu Single submitter ⚠
- p.Ser15Asn Single submitter ⚠
- p.Ser375Thr Single submitter ⚠
- p.Ser416Leu Single submitter ⚠
- p.Ser425Leu Single submitter ⚠
- p.Thr327Met Single submitter ⚠
- p.Thr410Met Single submitter ⚠
- p.Thr78Ile Single submitter ⚠
- p.Tyr24His Single submitter ⚠
- p.Tyr267Asn Single submitter
- p.Tyr394Cys Single submitter ⚠
- p.Val260Ala Single submitter ⚠
- p.Val429Ala Single submitter ⚠
- p.Val79Leu Single submitter ⚠
- p.Val9Ile Single submitter ⚠
- p.Thr454Ser No assertion criteria myoepithelial tumor ⚠