TERB1 — 18 ClinVar variants
All ClinVar germline TERB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →
4 Pathogenic · 7 Likely benign · 7 Uncertain significance
Full TERB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 6
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TERB1 p.Arg457Gln Uncertain significance Single submitter
- TERB1 p.Asn511Ser Uncertain significance Single submitter
- TERB1 p.Asn534Ser Uncertain significance Single submitter
- TERB1 p.Gly458Asp Uncertain significance Single submitter
- TERB1 p.Leu335Val Uncertain significance Single submitter
- TERB1 p.Tyr333Cys Uncertain significance Single submitter
All TERB1 variants
Pathogenic 4
- p.Ser568Ter Single submitter Non-obstructive azoospermia
- p.Arg605Ter No assertion criteria spermatogenic failure 60
- p.Gly245Arg No assertion criteria azoospermia
- p.Leu97fs No assertion criteria spermatogenic failure 60
Likely benign 7
- p.Arg220His Single submitter
- p.Arg706Trp Single submitter
- p.Leu23= Single submitter
- p.Pro494= Single submitter
- p.Ser351= Single submitter
- p.Thr581= Single submitter
- p.Val273= Single submitter
Uncertain significance 7
- p.Arg457Gln Single submitter ⚠
- p.Arg706Gln Single submitter
- p.Asn511Ser Single submitter ⚠
- p.Asn534Ser Single submitter ⚠
- p.Gly458Asp Single submitter ⚠
- p.Leu335Val Single submitter ⚠
- p.Tyr333Cys Single submitter ⚠