TMPRSS2 — 24 ClinVar variants
All ClinVar germline TMPRSS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
4 Benign · 9 Likely benign · 11 Uncertain significance
Full TMPRSS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TMPRSS2 p.Ala490Gly Uncertain significance Single submitter
- TMPRSS2 p.Arg470Gly Uncertain significance Single submitter
- TMPRSS2 p.Asn249Asp Uncertain significance Single submitter
- TMPRSS2 p.Cys244Phe Uncertain significance Single submitter
- TMPRSS2 p.Glu260Lys Uncertain significance Single submitter
- TMPRSS2 p.Glu376Lys Uncertain significance Single submitter
- TMPRSS2 p.Gly283Cys Uncertain significance Single submitter
- TMPRSS2 p.Lys449Gln Uncertain significance Single submitter
- TMPRSS2 p.Val415Asp Uncertain significance Single submitter
- TMPRSS2 p.Val477Met Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
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TMPRSS2 p.Gly181Arg
Likely benign
No assertion criteria
EBV-positive nodal T- and NK-cell lymphoma
All TMPRSS2 variants
Benign 4
- p.Ala216= Multiple submitters
- p.Tyr180= Multiple submitters
- p.Val160Met Multiple submitters
- p.Pro264= Single submitter
Likely benign 9
- p.Ala28Thr Single submitter
- p.Arg489= Single submitter
- p.His307Tyr Single submitter
- p.Lys300= Single submitter
- p.Ser261= Single submitter
- p.Thr309Met Single submitter
- p.Gly181Arg No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠
- p.Gly325Arg No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Pro375Ser No assertion criteria TMPRSS2-related disorder
Uncertain significance 11
- p.Ala490Gly Single submitter ⚠
- p.Arg470Gly Single submitter ⚠
- p.Asn249Asp Single submitter ⚠
- p.Cys244Phe Single submitter ⚠
- p.Glu260Lys Single submitter ⚠
- p.Glu376Lys Single submitter ⚠
- p.Gly283Cys Single submitter ⚠
- p.Lys449Gln Single submitter ⚠
- p.Val415Asp Single submitter ⚠
- p.Val477Met Single submitter ⚠
- p.Gln408fs No assertion criteria prostate cancer