ABCE1 — 30 ClinVar variants
All ClinVar germline ABCE1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
4 Benign · 2 Likely benign · 24 Uncertain significance
Full ABCE1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ABCE1 p.Asp205Gly Uncertain significance Single submitter
- ABCE1 p.Asp216Glu Uncertain significance Single submitter
- ABCE1 p.Asp3Glu Uncertain significance Single submitter
- ABCE1 p.Asp444Asn Uncertain significance Single submitter
- ABCE1 p.Gly113Ser Uncertain significance Single submitter
- ABCE1 p.Ile309Val Uncertain significance Single submitter
- ABCE1 p.Ile8Thr Uncertain significance Single submitter
- ABCE1 p.Leu70Val Uncertain significance Single submitter
- ABCE1 p.Lys349Thr Uncertain significance Single submitter
- ABCE1 p.Met345Leu Uncertain significance Single submitter
- ABCE1 p.Met357Ile Uncertain significance Single submitter
- ABCE1 p.Met357Leu Uncertain significance Single submitter
- ABCE1 p.Phe225Tyr Uncertain significance Single submitter
- ABCE1 p.Phe388Leu Uncertain significance Single submitter
- ABCE1 p.Pro439Leu Uncertain significance Single submitter
- ABCE1 p.Ser51Phe Uncertain significance Single submitter
- ABCE1 p.Val105Ala Uncertain significance Single submitter
- ABCE1 p.Val230Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ABCE1 p.Asn338His Uncertain significance Single submitter
- ABCE1 p.Asp135Asn Uncertain significance Single submitter
- ABCE1 p.Gln426His Uncertain significance Single submitter
- ABCE1 p.Glu368Lys Uncertain significance Single submitter
- ABCE1 p.Ile508Val Uncertain significance Single submitter
-
ABCE1 p.Asp236Glu
Uncertain significance
No assertion criteria
prostate cancer
All ABCE1 variants
Benign 4
- p.Cys475= Multiple submitters
- p.Gly110= Multiple submitters
- c.613+7G>T Single submitter
- p.Glu242= Single submitter
Likely benign 2
- p.Gln549His Single submitter
- p.Ile199Val Single submitter
Uncertain significance 24
- p.Asn338His Single submitter ⚠
- p.Asp135Asn Single submitter ⚠
- p.Asp205Gly Single submitter ⚠
- p.Asp216Glu Single submitter ⚠
- p.Asp3Glu Single submitter ⚠
- p.Asp444Asn Single submitter ⚠
- p.Gln426His Single submitter ⚠
- p.Glu368Lys Single submitter ⚠
- p.Gly113Ser Single submitter ⚠
- p.Ile309Val Single submitter ⚠
- p.Ile508Val Single submitter ⚠
- p.Ile8Thr Single submitter ⚠
- p.Leu70Val Single submitter ⚠
- p.Lys349Thr Single submitter ⚠
- p.Met345Leu Single submitter ⚠
- p.Met357Ile Single submitter ⚠
- p.Met357Leu Single submitter ⚠
- p.Phe225Tyr Single submitter ⚠
- p.Phe388Leu Single submitter ⚠
- p.Pro439Leu Single submitter ⚠
- p.Ser51Phe Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val230Ile Single submitter ⚠
- p.Asp236Glu No assertion criteria prostate cancer ⚠