AACS — 122 ClinVar variants
All ClinVar germline AACS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
6 Benign · 3 Likely benign · 113 Uncertain significance
Full AACS gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- AACS p.Ala271Pro Uncertain significance Single submitter
- AACS p.Ala39Thr Uncertain significance Single submitter
- AACS p.Ala477Val Uncertain significance Single submitter
- AACS p.Ala594Ser Uncertain significance Single submitter
- AACS p.Ala88Val Uncertain significance Single submitter
- AACS p.Arg195Gln Uncertain significance Single submitter
- AACS p.Arg539Trp Uncertain significance Single submitter
- AACS p.Arg75His Uncertain significance Single submitter
- AACS p.Arg75Ser Uncertain significance Single submitter
- AACS p.Asn364Ser Uncertain significance Single submitter
- AACS p.Asn547Ser Uncertain significance Single submitter
- AACS p.Asn558Ser Uncertain significance Single submitter
- AACS p.Asp186Gly Uncertain significance Single submitter
- AACS p.Asp355Val Uncertain significance Single submitter
- AACS p.Asp440Asn Uncertain significance Single submitter
- AACS p.Asp440Gly Uncertain significance Single submitter
- AACS p.Asp523Asn Uncertain significance Single submitter
- AACS p.Cys40Tyr Uncertain significance Single submitter
- AACS p.Gln402His Uncertain significance Single submitter
- AACS p.Glu168Lys Uncertain significance Single submitter
- AACS p.Glu20Gln Uncertain significance Single submitter
- AACS p.Gly188Ser Uncertain significance Single submitter
- AACS p.Gly356Asp Uncertain significance Single submitter
- AACS p.Gly37Cys Uncertain significance Single submitter
- AACS p.Gly438Val Uncertain significance Single submitter
- AACS p.Gly610Asp Uncertain significance Single submitter
- AACS p.Gly96Cys Uncertain significance Single submitter
- AACS p.His302Leu Uncertain significance Single submitter
- AACS p.His615Arg Uncertain significance Single submitter
- AACS p.Ile204Val Uncertain significance Single submitter
- AACS p.Ile559Val Uncertain significance Single submitter
- AACS p.Leu570Pro Uncertain significance Single submitter
- AACS p.Leu611Phe Uncertain significance Single submitter
- AACS p.Lys151Arg Uncertain significance Single submitter
- AACS p.Lys634Asn Uncertain significance Single submitter
- AACS p.Met220Thr Uncertain significance Single submitter
- AACS p.Met288Ile Uncertain significance Single submitter
- AACS p.Met446Leu Uncertain significance Single submitter
- AACS p.Pro490Leu Uncertain significance Single submitter
- AACS p.Ser291Leu Uncertain significance Single submitter
- AACS p.Ser343Tyr Uncertain significance Single submitter
- AACS p.Ser97Gly Uncertain significance Single submitter
- AACS p.Thr265Ala Uncertain significance Single submitter
- AACS p.Thr629Met Uncertain significance Single submitter
- AACS p.Trp66Cys Uncertain significance Single submitter
- AACS p.Tyr524Asp Uncertain significance Single submitter
- AACS p.Val192Met Uncertain significance Single submitter
- AACS p.Val211Ile Uncertain significance Single submitter
- AACS p.Val257Met Uncertain significance Single submitter
- AACS p.Val637Leu Uncertain significance Single submitter
Predictors split 63
The independent predictors disagree with each other — read with care.
- AACS p.Ala169Thr Uncertain significance Single submitter
- AACS p.Ala349Val Uncertain significance Single submitter
- AACS p.Ala467Val Uncertain significance Single submitter
- AACS p.Ala63Val Uncertain significance Single submitter
- AACS p.Arg107Trp Uncertain significance Single submitter
- AACS p.Arg135Met Uncertain significance Single submitter
- AACS p.Arg245Gly Uncertain significance Single submitter
- AACS p.Arg462Trp Uncertain significance Single submitter
- AACS p.Arg604Cys Uncertain significance Single submitter
- AACS p.Arg608His Uncertain significance Single submitter
- AACS p.Arg664Gln Uncertain significance Single submitter
- AACS p.Arg664Trp Uncertain significance Single submitter
- AACS p.Arg9Trp Uncertain significance Single submitter
- AACS p.Asn320Ser Uncertain significance Single submitter
- AACS p.Asn449Ile Uncertain significance Single submitter
- AACS p.Asn545Lys Uncertain significance Single submitter
- AACS p.Asn558Tyr Uncertain significance Single submitter
- AACS p.Asp249Asn Uncertain significance Single submitter
- AACS p.Asp605Val Uncertain significance Single submitter
- AACS p.Asp89His Uncertain significance Single submitter
- AACS p.Cys425Arg Uncertain significance Single submitter
- AACS p.Gln574Glu Uncertain significance Single submitter
- AACS p.Glu14Val Uncertain significance Single submitter
- AACS p.Glu277Lys Uncertain significance Single submitter
- AACS p.Glu473Lys Uncertain significance Single submitter
- AACS p.Glu64Lys Uncertain significance Single submitter
- AACS p.Glu658Lys Uncertain significance Single submitter
- AACS p.Gly266Ser Uncertain significance Single submitter
- AACS p.Gly319Ser Uncertain significance Single submitter
- AACS p.Gly334Ser Uncertain significance Single submitter
- AACS p.Gly483Ser Uncertain significance Single submitter
- AACS p.Gly592Arg Uncertain significance Single submitter
- AACS p.His497Arg Uncertain significance Single submitter
- AACS p.Ile559Thr Uncertain significance Single submitter
- AACS p.Leu105Phe Uncertain significance Single submitter
- AACS p.Leu259Val Uncertain significance Single submitter
- AACS p.Leu279Val Uncertain significance Single submitter
- AACS p.Leu404Ile Uncertain significance Single submitter
- AACS p.Lys152Asn Uncertain significance Single submitter
- AACS p.Lys215Arg Uncertain significance Single submitter
- AACS p.Lys391Glu Uncertain significance Single submitter
- AACS p.Met300Leu Uncertain significance Single submitter
- AACS p.Phe32Leu Uncertain significance Single submitter
- AACS p.Pro185Leu Uncertain significance Single submitter
- AACS p.Pro657Ser Uncertain significance Single submitter
- AACS p.Ser163Arg Uncertain significance Single submitter
- AACS p.Ser163Gly Uncertain significance Single submitter
- AACS p.Ser569Thr Uncertain significance Single submitter
- AACS p.Ser84Leu Uncertain significance Single submitter
- AACS p.Thr347Ala Uncertain significance Single submitter
- AACS p.Thr362Met Uncertain significance Single submitter
- AACS p.Thr362Pro Uncertain significance Single submitter
- AACS p.Thr376Ala Uncertain significance Single submitter
- AACS p.Thr380Ile Uncertain significance Single submitter
- AACS p.Thr406Met Uncertain significance Single submitter
- AACS p.Tyr423Cys Uncertain significance Single submitter
- AACS p.Tyr628Cys Uncertain significance Single submitter
- AACS p.Val236Leu Uncertain significance Single submitter
- AACS p.Val36Met Uncertain significance Single submitter
- AACS p.Val468Leu Uncertain significance Single submitter
- AACS p.Val468Met Uncertain significance Single submitter
- AACS p.Val639Ile Uncertain significance Single submitter
- AACS p.Val648Met Uncertain significance Single submitter
All AACS variants
Benign 6
- c.1881+8C>G Multiple submitters
- p.Arg107= Multiple submitters
- p.Glu564Gln Multiple submitters
- p.Ile430= Multiple submitters
- p.Phe276= Multiple submitters
- p.Ser554= Single submitter
Uncertain significance 113
- p.Ala169Thr Single submitter ⚠
- p.Ala271Pro Single submitter ⚠
- p.Ala349Val Single submitter ⚠
- p.Ala39Thr Single submitter ⚠
- p.Ala467Val Single submitter ⚠
- p.Ala477Val Single submitter ⚠
- p.Ala594Ser Single submitter ⚠
- p.Ala63Val Single submitter ⚠
- p.Ala88Val Single submitter ⚠
- p.Arg107Trp Single submitter ⚠
- p.Arg135Met Single submitter ⚠
- p.Arg195Gln Single submitter ⚠
- p.Arg245Gly Single submitter ⚠
- p.Arg462Trp Single submitter ⚠
- p.Arg539Trp Single submitter ⚠
- p.Arg604Cys Single submitter ⚠
- p.Arg608His Single submitter ⚠
- p.Arg664Gln Single submitter ⚠
- p.Arg664Trp Single submitter ⚠
- p.Arg75His Single submitter ⚠
- p.Arg75Ser Single submitter ⚠
- p.Arg9Trp Single submitter ⚠
- p.Asn320Ser Single submitter ⚠
- p.Asn364Ser Single submitter ⚠
- p.Asn449Ile Single submitter ⚠
- p.Asn545Lys Single submitter ⚠
- p.Asn547Ser Single submitter ⚠
- p.Asn558Ser Single submitter ⚠
- p.Asn558Tyr Single submitter ⚠
- p.Asp186Gly Single submitter ⚠
- p.Asp249Asn Single submitter ⚠
- p.Asp355Val Single submitter ⚠
- p.Asp440Asn Single submitter ⚠
- p.Asp440Gly Single submitter ⚠
- p.Asp523Asn Single submitter ⚠
- p.Asp605Val Single submitter ⚠
- p.Asp89His Single submitter ⚠
- p.Cys40Tyr Single submitter ⚠
- p.Cys425Arg Single submitter ⚠
- p.Gln402His Single submitter ⚠
- p.Gln574Glu Single submitter ⚠
- p.Glu14Val Single submitter ⚠
- p.Glu168Lys Single submitter ⚠
- p.Glu20Gln Single submitter ⚠
- p.Glu277Lys Single submitter ⚠
- p.Glu473Lys Single submitter ⚠
- p.Glu64Lys Single submitter ⚠
- p.Glu658Lys Single submitter ⚠
- p.Gly188Ser Single submitter ⚠
- p.Gly266Ser Single submitter ⚠
- p.Gly319Ser Single submitter ⚠
- p.Gly334Ser Single submitter ⚠
- p.Gly356Asp Single submitter ⚠
- p.Gly37Cys Single submitter ⚠
- p.Gly438Val Single submitter ⚠
- p.Gly483Ser Single submitter ⚠
- p.Gly592Arg Single submitter ⚠
- p.Gly610Asp Single submitter ⚠
- p.Gly96Cys Single submitter ⚠
- p.His302Leu Single submitter ⚠
- p.His497Arg Single submitter ⚠
- p.His615Arg Single submitter ⚠
- p.Ile204Val Single submitter ⚠
- p.Ile559Thr Single submitter ⚠
- p.Ile559Val Single submitter ⚠
- p.Leu105Phe Single submitter ⚠
- p.Leu259Val Single submitter ⚠
- p.Leu279Val Single submitter ⚠
- p.Leu404Ile Single submitter ⚠
- p.Leu570Pro Single submitter ⚠
- p.Leu611Phe Single submitter ⚠
- p.Lys151Arg Single submitter ⚠
- p.Lys152Asn Single submitter ⚠
- p.Lys215Arg Single submitter ⚠
- p.Lys391Glu Single submitter ⚠
- p.Lys634Asn Single submitter ⚠
- p.Met220Thr Single submitter ⚠
- p.Met288Ile Single submitter ⚠
- p.Met300Leu Single submitter ⚠
- p.Met446Leu Single submitter ⚠
- p.Phe32Leu Single submitter ⚠
- p.Pro185Leu Single submitter ⚠
- p.Pro490Leu Single submitter ⚠
- p.Pro657Ser Single submitter ⚠
- p.Ser163Arg Single submitter ⚠
- p.Ser163Gly Single submitter ⚠
- p.Ser291Leu Single submitter ⚠
- p.Ser343Tyr Single submitter ⚠
- p.Ser569Thr Single submitter ⚠
- p.Ser84Leu Single submitter ⚠
- p.Ser97Gly Single submitter ⚠
- p.Thr265Ala Single submitter ⚠
- p.Thr347Ala Single submitter ⚠
- p.Thr362Met Single submitter ⚠
- p.Thr362Pro Single submitter ⚠
- p.Thr376Ala Single submitter ⚠
- p.Thr380Ile Single submitter ⚠
- p.Thr406Met Single submitter ⚠
- p.Thr629Met Single submitter ⚠
- p.Trp66Cys Single submitter ⚠
- p.Tyr423Cys Single submitter ⚠
- p.Tyr524Asp Single submitter ⚠
- p.Tyr628Cys Single submitter ⚠
- p.Val192Met Single submitter ⚠
- p.Val211Ile Single submitter ⚠
- p.Val236Leu Single submitter ⚠
- p.Val257Met Single submitter ⚠
- p.Val36Met Single submitter ⚠
- p.Val468Leu Single submitter ⚠
- p.Val468Met Single submitter ⚠
- p.Val637Leu Single submitter ⚠
- p.Val639Ile Single submitter ⚠
- p.Val648Met Single submitter ⚠