ASIC2 — 85 ClinVar variants

All ClinVar germline ASIC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 40 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 2 Benign · 1 Likely benign · 80 Uncertain significance

Full ASIC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 40

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 27

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All ASIC2 variants

Pathogenic 1

c.556-198516_556-198515insTTACCTGCAATGTGCTGGGTTATCTGTTCCTTCTCATTATCTTCCAGCTCTTCCCAGCCTTCCAGCTCTGTGAGGTCCTCGATYTTGTT Single submitter mitochondrial DNA depletion syndrome 20 (mngie type)

Likely pathogenic 1

c.556-384796G>A No assertion criteria dilated cardiomyopathy 1A

Benign 2

c.988-4G>A Multiple submitters
p.Ala293= Multiple submitters

Likely benign 1

p.Pro38= Single submitter

Uncertain significance 80

p.Ala129Thr Single submitter ⚠
p.Ala136Val Single submitter ⚠
p.Ala28Glu Single submitter
p.Ala382Val Single submitter ⚠
p.Ala402Val Single submitter ⚠
p.Ala47Thr Single submitter
p.Ala79Ser Single submitter
p.Ala87Val Single submitter
p.Arg122Gly Single submitter
p.Arg126Ser Single submitter
p.Arg138Trp Single submitter ⚠
p.Arg168His Single submitter
p.Arg176Gln Single submitter
p.Arg24Gly Single submitter
p.Arg329Met Single submitter ⚠
p.Arg58Gln Single submitter
p.Arg58Trp Single submitter
p.Arg63Cys Single submitter
p.Arg63Gly Single submitter
p.Asn407Asp Single submitter ⚠
p.Asp130Glu Single submitter ⚠
p.Asp348Asn Single submitter ⚠
p.Asp522Asn Single submitter ⚠
p.Asp527Asn Single submitter ⚠
p.Gln326Ter Single submitter
p.Gln486His Single submitter ⚠
p.Gln82Pro Single submitter ⚠
p.Glu173Asp Single submitter
p.Glu173Lys Single submitter
p.Glu25Val Single submitter
p.Glu520Gly Single submitter ⚠
p.Glu523Lys Single submitter ⚠
p.Gly177Cys Single submitter
p.Gly265Ser Single submitter ⚠
p.Gly36Arg Single submitter
p.Gly39Arg Single submitter
p.Gly41Cys Single submitter
p.Gly52Ala Single submitter
p.Gly80Glu Single submitter
p.Gly8Arg Single submitter
p.His156Tyr Single submitter
p.Ile355Thr Single submitter ⚠
p.Ile360Thr Single submitter ⚠
p.Ile367Val Single submitter ⚠
p.Leu193Val Single submitter
p.Leu228Phe Single submitter
p.Leu401Phe Single submitter ⚠
p.Leu501Phe Single submitter ⚠
p.Leu551Val Single submitter ⚠
p.Leu69Val Single submitter
p.Leu88Val Single submitter
p.Leu91Met Single submitter
p.Leu9Arg Single submitter
p.Met218Thr Single submitter
p.Met22Arg Single submitter
p.Met271Thr Single submitter ⚠
p.Met378Ile Single submitter ⚠
p.Phe183Leu Single submitter ⚠
p.Phe49Ser Single submitter ⚠
p.Pro129Arg Single submitter
p.Pro17Leu Single submitter
p.Pro180Leu Single submitter
p.Pro231Ser Single submitter
p.Pro334Ser Single submitter ⚠
p.Pro537Gln Single submitter ⚠
p.Pro550Ser Single submitter ⚠
p.Ser431Arg Single submitter ⚠
p.Ser60Ala Single submitter
p.Ser60Leu Single submitter
p.Thr286Arg Single submitter ⚠
p.Thr289Met Single submitter ⚠
p.Thr290Ile Single submitter ⚠
p.Thr553Met Single submitter ⚠
p.Thr557Ile Single submitter ⚠
p.Tyr146Cys Single submitter ⚠
p.Tyr504Cys Single submitter ⚠
p.Val376Ala Single submitter ⚠
p.Val50Met Single submitter ⚠
p.Val90Leu Single submitter
p.His377Asn No assertion criteria prostate cancer ⚠