ASIC5 — 82 ClinVar variants
All ClinVar germline ASIC5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
1 Pathogenic · 10 Likely benign · 71 Uncertain significance
Full ASIC5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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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ASIC5 p.Arg227Ile
Pathogenic
No assertion criteria
pregnancy loss, recurrent, susceptibility to, 3
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASIC5 p.Ala218Gly Uncertain significance Single submitter
- ASIC5 p.Ala396Thr Uncertain significance Single submitter
- ASIC5 p.Arg408Gly Uncertain significance Single submitter
- ASIC5 p.Asn426Lys Uncertain significance Single submitter
- ASIC5 p.Asn56Ser Uncertain significance Single submitter
- ASIC5 p.Cys112Tyr Uncertain significance Single submitter
- ASIC5 p.Cys377Tyr Uncertain significance Single submitter
- ASIC5 p.Gln285Lys Uncertain significance Single submitter
- ASIC5 p.Gln322Arg Uncertain significance Single submitter
- ASIC5 p.Gln3Lys Uncertain significance Single submitter
- ASIC5 p.Gln487His Uncertain significance Single submitter
- ASIC5 p.Gln99Arg Uncertain significance Single submitter
- ASIC5 p.Gly268Glu Uncertain significance Single submitter
- ASIC5 p.Gly270Arg Uncertain significance Single submitter
- ASIC5 p.Gly446Asp Uncertain significance Single submitter
- ASIC5 p.Gly447Cys Uncertain significance Single submitter
- ASIC5 p.Ile166Thr Uncertain significance Single submitter
- ASIC5 p.Ile253Phe Uncertain significance Single submitter
- ASIC5 p.Ile340Lys Uncertain significance Single submitter
- ASIC5 p.Ile358Val Uncertain significance Single submitter
- ASIC5 p.Ile386Val Uncertain significance Single submitter
- ASIC5 p.Ile418Asn Uncertain significance Single submitter
- ASIC5 p.Ile429Lys Uncertain significance Single submitter
- ASIC5 p.Ile482Val Uncertain significance Single submitter
- ASIC5 p.Ile50Leu Uncertain significance Single submitter
- ASIC5 p.Ile80Phe Uncertain significance Single submitter
- ASIC5 p.Leu355Pro Uncertain significance Single submitter
- ASIC5 p.Lys25Arg Uncertain significance Single submitter
- ASIC5 p.Lys36Glu Uncertain significance Single submitter
- ASIC5 p.Pro191Thr Uncertain significance Single submitter
- ASIC5 p.Pro27Ser Uncertain significance Single submitter
- ASIC5 p.Pro31Leu Uncertain significance Single submitter
- ASIC5 p.Pro490Ser Uncertain significance Single submitter
- ASIC5 p.Thr312Ser Uncertain significance Single submitter
- ASIC5 p.Thr45Ile Uncertain significance Single submitter
- ASIC5 p.Thr469Ser Uncertain significance Single submitter
- ASIC5 p.Thr4Ala Uncertain significance Single submitter
- ASIC5 p.Tyr176His Uncertain significance Single submitter
- ASIC5 p.Tyr382Phe Uncertain significance Single submitter
- ASIC5 p.Val249Ile Uncertain significance Single submitter
- ASIC5 p.Val263Leu Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- ASIC5 p.Ala435Val Uncertain significance Single submitter
- ASIC5 p.Arg284Cys Uncertain significance Single submitter
- ASIC5 p.Arg284His Uncertain significance Single submitter
- ASIC5 p.Arg34Gln Uncertain significance Single submitter
- ASIC5 p.Arg408Trp Uncertain significance Single submitter
- ASIC5 p.Arg61Leu Uncertain significance Single submitter
- ASIC5 p.Arg83His Uncertain significance Single submitter
- ASIC5 p.Asn163Ser Uncertain significance Single submitter
- ASIC5 p.Asn234Ser Likely benign Single submitter
- ASIC5 p.Asn370Tyr Uncertain significance Single submitter
- ASIC5 p.Gln432Lys Uncertain significance Single submitter
- ASIC5 p.Gln79His Uncertain significance Single submitter
- ASIC5 p.Glu33Gly Uncertain significance Single submitter
- ASIC5 p.Gly228Ser Uncertain significance Single submitter
- ASIC5 p.Gly247Ser Uncertain significance Single submitter
- ASIC5 p.Ile324Met Uncertain significance Single submitter
- ASIC5 p.Ile358Thr Uncertain significance Single submitter
- ASIC5 p.Ile418Thr Uncertain significance Single submitter
- ASIC5 p.Ile464Thr Uncertain significance Single submitter
- ASIC5 p.Leu23Val Uncertain significance Single submitter
- ASIC5 p.Phe188Leu Uncertain significance Single submitter
- ASIC5 p.Phe266Ser Uncertain significance Single submitter
- ASIC5 p.Pro264Thr Uncertain significance Single submitter
- ASIC5 p.Pro383Leu Uncertain significance Single submitter
- ASIC5 p.Pro392Leu Uncertain significance Single submitter
- ASIC5 p.Ser401Pro Uncertain significance Single submitter
- ASIC5 p.Thr119Pro Uncertain significance Single submitter
- ASIC5 p.Thr288Ile Uncertain significance Single submitter
- ASIC5 p.Thr459Met Uncertain significance Single submitter
- ASIC5 p.Thr94Ala Uncertain significance Single submitter
- ASIC5 p.Tyr100His Uncertain significance Single submitter
All ASIC5 variants
Pathogenic 1
- p.Arg227Ile No assertion criteria pregnancy loss, recurrent, susceptibility to, 3 ⚠
Likely benign 10
- p.Asn234Ser Single submitter ⚠
- p.Asn470Ser Single submitter
- p.Met104Ile Single submitter
- p.Pro29Leu Single submitter
- p.Ser193Gly Single submitter
- p.Ser439Pro Single submitter
- p.Val167Ala Single submitter
- p.Val256Ala Single submitter
- p.Cys22Phe No assertion criteria ASIC5-related disorder
- p.Ile96Thr No assertion criteria ASIC5-related disorder
Uncertain significance 71
- p.Ala218Gly Single submitter ⚠
- p.Ala396Thr Single submitter ⚠
- p.Ala435Val Single submitter ⚠
- p.Arg284Cys Single submitter ⚠
- p.Arg284His Single submitter ⚠
- p.Arg34Gln Single submitter ⚠
- p.Arg408Gly Single submitter ⚠
- p.Arg408Trp Single submitter ⚠
- p.Arg61Leu Single submitter ⚠
- p.Arg83His Single submitter ⚠
- p.Asn163Ser Single submitter ⚠
- p.Asn370Tyr Single submitter ⚠
- p.Asn426Lys Single submitter ⚠
- p.Asn56Ser Single submitter ⚠
- p.Cys112Tyr Single submitter ⚠
- p.Cys377Tyr Single submitter ⚠
- p.Gln285Lys Single submitter ⚠
- p.Gln322Arg Single submitter ⚠
- p.Gln3Lys Single submitter ⚠
- p.Gln432Lys Single submitter ⚠
- p.Gln487His Single submitter ⚠
- p.Gln79His Single submitter ⚠
- p.Gln99Arg Single submitter ⚠
- p.Glu33Gly Single submitter ⚠
- p.Gly228Ser Single submitter ⚠
- p.Gly247Ser Single submitter ⚠
- p.Gly268Glu Single submitter ⚠
- p.Gly270Arg Single submitter ⚠
- p.Gly446Asp Single submitter ⚠
- p.Gly447Cys Single submitter ⚠
- p.Ile166Thr Single submitter ⚠
- p.Ile253Phe Single submitter ⚠
- p.Ile324Met Single submitter ⚠
- p.Ile340Lys Single submitter ⚠
- p.Ile358Thr Single submitter ⚠
- p.Ile358Val Single submitter ⚠
- p.Ile386Val Single submitter ⚠
- p.Ile418Asn Single submitter ⚠
- p.Ile418Thr Single submitter ⚠
- p.Ile429Lys Single submitter ⚠
- p.Ile464Thr Single submitter ⚠
- p.Ile482Val Single submitter ⚠
- p.Ile50Leu Single submitter ⚠
- p.Ile80Phe Single submitter ⚠
- p.Leu23Val Single submitter ⚠
- p.Leu355Pro Single submitter ⚠
- p.Lys25Arg Single submitter ⚠
- p.Lys36Glu Single submitter ⚠
- p.Phe188Leu Single submitter ⚠
- p.Phe266Ser Single submitter ⚠
- p.Pro191Thr Single submitter ⚠
- p.Pro264Thr Single submitter ⚠
- p.Pro27Ser Single submitter ⚠
- p.Pro31Leu Single submitter ⚠
- p.Pro383Leu Single submitter ⚠
- p.Pro392Leu Single submitter ⚠
- p.Pro490Ser Single submitter ⚠
- p.Ser401Pro Single submitter ⚠
- p.Thr119Pro Single submitter ⚠
- p.Thr288Ile Single submitter ⚠
- p.Thr312Ser Single submitter ⚠
- p.Thr459Met Single submitter ⚠
- p.Thr45Ile Single submitter ⚠
- p.Thr469Ser Single submitter ⚠
- p.Thr4Ala Single submitter ⚠
- p.Thr94Ala Single submitter ⚠
- p.Tyr100His Single submitter ⚠
- p.Tyr176His Single submitter ⚠
- p.Tyr382Phe Single submitter ⚠
- p.Val249Ile Single submitter ⚠
- p.Val263Leu Single submitter ⚠