BIRC3 — 68 ClinVar variants
All ClinVar germline BIRC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
7 Likely pathogenic · 2 Benign · 6 Likely benign · 53 Uncertain significance
Full BIRC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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BIRC3 p.Asp530His
Likely pathogenic
Single submitter
Regional enteritis
Predictors lean, ClinVar uncertain 40
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BIRC3 p.Ala17Thr Uncertain significance Single submitter
- BIRC3 p.Ala423Val Uncertain significance Single submitter
- BIRC3 p.Ala435Thr Uncertain significance Single submitter
- BIRC3 p.Ala453Val Uncertain significance Single submitter
- BIRC3 p.Ala507Val Uncertain significance Single submitter
- BIRC3 p.Arg135Cys Uncertain significance Single submitter
- BIRC3 p.Arg159Ser Uncertain significance Single submitter
- BIRC3 p.Arg332Cys Uncertain significance Single submitter
- BIRC3 p.Arg332His Uncertain significance Single submitter
- BIRC3 p.Arg432Gly Uncertain significance Single submitter
- BIRC3 p.Asn130Thr Uncertain significance Single submitter
- BIRC3 p.Asn18Ser Uncertain significance Single submitter
- BIRC3 p.Asn512Thr Uncertain significance Single submitter
- BIRC3 p.Gln238Glu Uncertain significance Single submitter
- BIRC3 p.Gln240Arg Uncertain significance Single submitter
- BIRC3 p.Glu437Lys Uncertain significance Single submitter
- BIRC3 p.Glu438Asp Uncertain significance Single submitter
- BIRC3 p.Gly285Val Uncertain significance Single submitter
- BIRC3 p.His163Tyr Uncertain significance Single submitter
- BIRC3 p.His228Tyr Uncertain significance Single submitter
- BIRC3 p.Ile361Val Uncertain significance Single submitter
- BIRC3 p.Ile3Val Uncertain significance Single submitter
- BIRC3 p.Leu125Phe Uncertain significance Single submitter
- BIRC3 p.Leu212Trp Uncertain significance Single submitter
- BIRC3 p.Leu26Ser Uncertain significance Single submitter
- BIRC3 p.Leu50Val Uncertain significance Single submitter
- BIRC3 p.Lys439Arg Uncertain significance Single submitter
- BIRC3 p.Met72Ile Uncertain significance Single submitter
- BIRC3 p.Phe194Val Uncertain significance Single submitter
- BIRC3 p.Pro543Ser Uncertain significance Single submitter
- BIRC3 p.Ser337Arg Uncertain significance Single submitter
- BIRC3 p.Ser337Thr Uncertain significance Single submitter
- BIRC3 p.Thr488Met Uncertain significance Single submitter
- BIRC3 p.Thr601Ala Uncertain significance Single submitter
- BIRC3 p.Tyr338Asn Uncertain significance Single submitter
- BIRC3 p.Tyr533Cys Uncertain significance Single submitter
- BIRC3 p.Val269Ile Uncertain significance Single submitter
- BIRC3 p.Val334Ile Uncertain significance Single submitter
- BIRC3 p.Val4Leu Uncertain significance Single submitter
- BIRC3 p.Val60Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- BIRC3 p.Asn475Lys Uncertain significance Single submitter
- BIRC3 p.Gln335Glu Uncertain significance Single submitter
- BIRC3 p.Glu523Gly Uncertain significance Single submitter
- BIRC3 p.Gly198Glu Uncertain significance Single submitter
- BIRC3 p.His228Arg Uncertain significance Single submitter
- BIRC3 p.Ile331Thr Uncertain significance Single submitter
- BIRC3 p.Ile567Leu Uncertain significance Single submitter
- BIRC3 p.Leu239Pro Uncertain significance Single submitter
- BIRC3 p.Ser7Arg Uncertain significance Single submitter
All BIRC3 variants
Likely pathogenic 7
- p.Asp530His Single submitter Regional enteritis ⚠
- p.Cys557Ter Single submitter Regional enteritis
- p.Cys588Tyr Single submitter Regional enteritis
- p.His312Tyr Single submitter Regional enteritis
- p.Ter605Arg Single submitter Regional enteritis
- p.Thr35Ala Single submitter Regional enteritis
- p.Tyr522Ter Single submitter Regional enteritis
Likely benign 6
- p.Arg401Lys Multiple submitters
- p.Arg411Lys Single submitter
- p.Asp153= Single submitter
- p.Glu523Lys Single submitter
- p.Ile197Val Single submitter
- p.Leu26Phe Single submitter
Uncertain significance 53
- c.1033-7dup Single submitter
- p.Ala17Thr Single submitter ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala435Thr Single submitter ⚠
- p.Ala453Val Single submitter ⚠
- p.Ala507Val Single submitter ⚠
- p.Arg135Cys Single submitter ⚠
- p.Arg159Ser Single submitter ⚠
- p.Arg332Cys Single submitter ⚠
- p.Arg332His Single submitter ⚠
- p.Arg432Gly Single submitter ⚠
- p.Asn130Thr Single submitter ⚠
- p.Asn18Ser Single submitter ⚠
- p.Asn475Lys Single submitter ⚠
- p.Asn512Thr Single submitter ⚠
- p.Asp296Gly Single submitter
- p.Gln238Glu Single submitter ⚠
- p.Gln240Arg Single submitter ⚠
- p.Gln335Glu Single submitter ⚠
- p.Glu437Lys Single submitter ⚠
- p.Glu438Asp Single submitter ⚠
- p.Glu523Gly Single submitter ⚠
- p.Gly198Glu Single submitter ⚠
- p.Gly285Val Single submitter ⚠
- p.Gly70Asp Single submitter
- p.His163Tyr Single submitter ⚠
- p.His228Arg Single submitter ⚠
- p.His228Tyr Single submitter ⚠
- p.Ile331Thr Single submitter ⚠
- p.Ile361Val Single submitter ⚠
- p.Ile3Val Single submitter ⚠
- p.Ile567Leu Single submitter ⚠
- p.Leu125Phe Single submitter ⚠
- p.Leu212Trp Single submitter ⚠
- p.Leu239Pro Single submitter ⚠
- p.Leu26Ser Single submitter ⚠
- p.Leu50Val Single submitter ⚠
- p.Lys439Arg Single submitter ⚠
- p.Met72Ile Single submitter ⚠
- p.Phe194Val Single submitter ⚠
- p.Pro266Arg Single submitter Regional enteritis
- p.Pro543Ser Single submitter ⚠
- p.Ser337Arg Single submitter ⚠
- p.Ser337Thr Single submitter ⚠
- p.Ser7Arg Single submitter ⚠
- p.Thr488Met Single submitter ⚠
- p.Thr601Ala Single submitter ⚠
- p.Tyr338Asn Single submitter ⚠
- p.Tyr533Cys Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val334Ile Single submitter ⚠
- p.Val4Leu Single submitter ⚠
- p.Val60Met Single submitter ⚠