EPSTI1 — 77 ClinVar variants
All ClinVar germline EPSTI1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →
2 Benign · 5 Likely benign · 70 Uncertain significance
Full EPSTI1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 54
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 34
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EPSTI1 c.658-1684C>T Uncertain significance Single submitter
- EPSTI1 c.658-1690A>G Uncertain significance Single submitter
- EPSTI1 p.Ala263Val Uncertain significance Single submitter
- EPSTI1 p.Arg221Ser Uncertain significance Single submitter
- EPSTI1 p.Arg280Gln Uncertain significance Single submitter
- EPSTI1 p.Arg53Gly Uncertain significance Single submitter
- EPSTI1 p.Arg62Gly Uncertain significance Single submitter
- EPSTI1 p.Arg99Lys Uncertain significance Single submitter
- EPSTI1 p.Asn78Ser Uncertain significance Single submitter
- EPSTI1 p.Asp39Glu Uncertain significance Single submitter
- EPSTI1 p.Cys207Arg Uncertain significance Single submitter
- EPSTI1 p.Cys207Gly Uncertain significance Single submitter
- EPSTI1 p.Gln40Arg Uncertain significance Single submitter
- EPSTI1 p.Glu192Gln Uncertain significance Single submitter
- EPSTI1 p.Glu252Gln Uncertain significance Single submitter
- EPSTI1 p.Glu291Lys Uncertain significance Single submitter
- EPSTI1 p.Gly11Arg Uncertain significance Single submitter
- EPSTI1 p.Gly29Arg Uncertain significance Single submitter
- EPSTI1 p.Gly29Val Uncertain significance Single submitter
- EPSTI1 p.Gly43Ser Uncertain significance Single submitter
- EPSTI1 p.His185Asn Uncertain significance Single submitter
- EPSTI1 p.His185Tyr Uncertain significance Single submitter
- EPSTI1 p.His245Gln Uncertain significance Single submitter
- EPSTI1 p.His58Gln Uncertain significance Single submitter
- EPSTI1 p.Ile159Val Uncertain significance Single submitter
- EPSTI1 p.Leu105Val Uncertain significance Single submitter
- EPSTI1 p.Leu88Met Uncertain significance Single submitter
- EPSTI1 p.Lys122Glu Uncertain significance Single submitter
- EPSTI1 p.Lys166Glu Uncertain significance Single submitter
- EPSTI1 p.Met128Val Uncertain significance Single submitter
- EPSTI1 p.Pro16Leu Uncertain significance Single submitter
- EPSTI1 p.Val106Ala Uncertain significance Single submitter
- EPSTI1 p.Val106Gly Uncertain significance Single submitter
- EPSTI1 p.Val273Ile Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- EPSTI1 p.Arg82Gly Benign Multiple submitters
- EPSTI1 c.658-1687G>T Uncertain significance Single submitter
- EPSTI1 p.Ala151Thr Uncertain significance Single submitter
- EPSTI1 p.Arg143Gly Uncertain significance Single submitter
- EPSTI1 p.Arg172Ser Uncertain significance Single submitter
- EPSTI1 p.Arg255Trp Uncertain significance Single submitter
- EPSTI1 p.Arg76Gln Uncertain significance Single submitter
- EPSTI1 p.Arg76Trp Uncertain significance Single submitter
- EPSTI1 p.Glu149Lys Uncertain significance Single submitter
- EPSTI1 p.Glu175Gly Uncertain significance Single submitter
- EPSTI1 p.Glu243Ala Uncertain significance Single submitter
- EPSTI1 p.Glu261Gly Uncertain significance Single submitter
- EPSTI1 p.Gly112Glu Uncertain significance Single submitter
- EPSTI1 p.Leu251Val Uncertain significance Single submitter
- EPSTI1 p.Met128Thr Uncertain significance Single submitter
- EPSTI1 p.Phe182Leu Uncertain significance Single submitter
- EPSTI1 p.Pro102Leu Uncertain significance Single submitter
- EPSTI1 p.Pro72Ser Uncertain significance Single submitter
- EPSTI1 p.Ser141Pro Uncertain significance Single submitter
-
EPSTI1 p.Thr117Ile
Uncertain significance
No assertion criteria
prostate cancer
All EPSTI1 variants
Benign 2
- p.Arg82Gly Multiple submitters ⚠
- c.332-15dup Single submitter
Likely benign 5
- c.658-1699A>G Single submitter
- c.*191C>A Single submitter
- c.*202A>G Single submitter
- c.*27C>T Single submitter
- p.Ala206Thr Single submitter
Uncertain significance 70
- c.658-1684C>T Single submitter ⚠
- c.658-1687G>T Single submitter ⚠
- c.658-1690A>G Single submitter ⚠
- c.916-712T>G Single submitter
- c.916-713C>G Single submitter
- c.916-714C>G Single submitter
- c.*102T>C Single submitter
- c.*119A>G Single submitter
- c.*122C>T Single submitter
- c.*161C>T Single submitter
- c.*168A>G Single submitter
- c.*171C>A Single submitter
- c.*182G>C Single submitter
- c.*194G>A Single submitter
- c.*201T>C Single submitter
- c.*33C>A Single submitter
- c.*50C>T Single submitter
- c.*74A>G Single submitter
- c.*7A>G Single submitter
- c.*99C>T Single submitter
- p.Ala151Thr Single submitter ⚠
- p.Ala263Val Single submitter ⚠
- p.Arg143Gly Single submitter ⚠
- p.Arg172Ser Single submitter ⚠
- p.Arg221Ser Single submitter ⚠
- p.Arg255Trp Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg53Gly Single submitter ⚠
- p.Arg62Gly Single submitter ⚠
- p.Arg76Gln Single submitter ⚠
- p.Arg76Trp Single submitter ⚠
- p.Arg99Lys Single submitter ⚠
- p.Asn78Ser Single submitter ⚠
- p.Asp39Glu Single submitter ⚠
- p.Cys207Arg Single submitter ⚠
- p.Cys207Gly Single submitter ⚠
- p.Gln40Arg Single submitter ⚠
- p.Glu149Lys Single submitter ⚠
- p.Glu175Gly Single submitter ⚠
- p.Glu192Gln Single submitter ⚠
- p.Glu243Ala Single submitter ⚠
- p.Glu252Gln Single submitter ⚠
- p.Glu261Gly Single submitter ⚠
- p.Glu291Lys Single submitter ⚠
- p.Gly112Glu Single submitter ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly29Arg Single submitter ⚠
- p.Gly29Val Single submitter ⚠
- p.Gly43Ser Single submitter ⚠
- p.His185Asn Single submitter ⚠
- p.His185Tyr Single submitter ⚠
- p.His245Gln Single submitter ⚠
- p.His58Gln Single submitter ⚠
- p.Ile159Val Single submitter ⚠
- p.Leu105Val Single submitter ⚠
- p.Leu251Val Single submitter ⚠
- p.Leu88Met Single submitter ⚠
- p.Lys122Glu Single submitter ⚠
- p.Lys166Glu Single submitter ⚠
- p.Met128Thr Single submitter ⚠
- p.Met128Val Single submitter ⚠
- p.Phe182Leu Single submitter ⚠
- p.Pro102Leu Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Ser141Pro Single submitter ⚠
- p.Val106Ala Single submitter ⚠
- p.Val106Gly Single submitter ⚠
- p.Val273Ile Single submitter ⚠
- p.Thr117Ile No assertion criteria prostate cancer ⚠