ASCC1 — 234 ClinVar variants
All ClinVar germline ASCC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
15 Pathogenic · 4 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 2 Conflicting · 28 Benign · 5 Benign/Likely benign · 97 Likely benign · 75 Uncertain significance
Full ASCC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ASCC1 p.Ala300Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASCC1 p.Arg14Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASCC1 p.Gln131His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASCC1 p.Gln24Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASCC1 p.His28Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASCC1 p.Ile305Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASCC1 p.Arg128Gln Uncertain significance Single submitter
- ASCC1 p.Arg129Lys Uncertain significance Single submitter
-
ASCC1 p.Arg14Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Arg260His Uncertain significance Single submitter
-
ASCC1 p.Asn19Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Asp100Glu Uncertain significance Single submitter
- ASCC1 p.Asp168His Uncertain significance Single submitter
-
ASCC1 p.Asp31Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Asp79Asn Uncertain significance Single submitter
- ASCC1 p.Gln108Arg Uncertain significance Single submitter
- ASCC1 p.Gln195His Uncertain significance Single submitter
- ASCC1 p.Gln57Glu Uncertain significance Single submitter
- ASCC1 p.Glu41Gly Uncertain significance Single submitter
- ASCC1 p.Glu85Gly Uncertain significance Single submitter
-
ASCC1 p.Glu87Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Gly166Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Gly302Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.His109Arg Uncertain significance Single submitter
- ASCC1 p.Ile182Val Uncertain significance Single submitter
-
ASCC1 p.Ile211Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Ile9Val Uncertain significance Single submitter
- ASCC1 p.Leu4Val Uncertain significance Single submitter
-
ASCC1 p.Met233Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Met40Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Ser189Thr Uncertain significance Single submitter
-
ASCC1 p.Ser91Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Thr181Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Tyr295Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Tyr70Cys Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
-
ASCC1 p.Arg260Cys
Uncertain significance
Multiple submitters
Barrett esophagus
-
ASCC1 p.Arg77Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ASCC1 p.Asp34Asn Benign Multiple submitters
-
ASCC1 p.Glu102Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASCC1 p.Gly302Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ASCC1 p.His277Tyr
Uncertain significance
Multiple submitters
spinal muscular atrophy with congenital bone fractures 2
- ASCC1 c.958-5416A>T Likely benign Single submitter
- ASCC1 c.958-5427T>G Likely benign Single submitter
- ASCC1 c.958-5429C>T Likely benign Single submitter
- ASCC1 c.958-5438A>T Uncertain significance Single submitter
- ASCC1 p.Ala159Val Uncertain significance Single submitter
- ASCC1 p.Arg110Gln Uncertain significance Single submitter
-
ASCC1 p.Arg117Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Arg119Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Arg249Ser Likely benign Single submitter
-
ASCC1 p.Asp125His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Glu102Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Glu156Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Glu156Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Glu191Gln Likely benign Single submitter
- ASCC1 p.Glu41Lys Uncertain significance Single submitter
- ASCC1 p.Gly232Val Uncertain significance Single submitter
-
ASCC1 p.Gly58Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Lys319Asn Uncertain significance Single submitter
-
ASCC1 p.Phe285Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Pro216Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Tyr36Cys
Conflicting
Single submitter
spinal muscular atrophy with congenital bone fractures 2
-
ASCC1 p.Val146Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ASCC1 p.Val157Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ASCC1 p.Val3Ala Likely benign Single submitter
- ASCC1 p.Val3Leu Uncertain significance Single submitter
All ASCC1 variants
Pathogenic 15
- c.311-2A>G Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Arg110Ter Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Arg117Ter Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Arg128Ter Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Gln262Ter Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- c.958-5426C>G Single submitter
- c.958-5483_958-5482insAAAAAAAAGGAAAAAAAAACATAGTATCTATTTCGTGGGGTTGTGAGGACGCAATAAGATAATTCCTGGCACATGTGTTTACTTAATAAATGTTGGCTGTTGTCATCTTTATTACTGTTGTTGTCAATACCTACATATTTCTAGTTCACTTTGATCTTTTTTTTGTTTTGTTTTGAGACAGAGCTTTGCCTTGTTGCCCAGGCTGGAGTACAATGAGC Single submitter
- p.Ala138fs Single submitter ASCC1-related disorder
- p.Gln147Ter Single submitter
- p.Gln27Ter Single submitter spinal muscular atrophy with congenital bone fractures 2
- p.Gln99Ter Single submitter
- p.Glu155fs Single submitter spinal muscular atrophy with congenital bone fractures 2
- p.Glu85fs Single submitter Inborn genetic diseases
- p.Tyr238Ter Single submitter Barrett esophagus
- p.Arg315Ter No assertion criteria spinal muscular atrophy with congenital bone fractures 2
Pathogenic/Likely pathogenic 4
- c.626+1G>A Multiple submitters fetal akinesia deformation sequence 1
- c.871+1G>A Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Gln195Ter Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Glu53fs Multiple submitters ASCC1-related disorder
Likely pathogenic 8
- c.213-8T>G Single submitter spinal muscular atrophy with congenital bone fractures 2
- c.626+2T>A Single submitter spinal muscular atrophy with congenital bone fractures 2
- c.872-1G>C Single submitter
- p.Arg256Ter Single submitter
- p.Gln202Ter Single submitter
- p.Leu158Pro Single submitter spinal muscular atrophy with congenital bone fractures 2
- p.Phe127fs Single submitter spinal muscular atrophy with congenital bone fractures 2
- p.Pro216_Leu217insTer Single submitter ASCC1-related disorder
Conflicting classifications of pathogenicity 2
- p.Asn209= Single submitter Inborn genetic diseases
- p.Tyr36Cys Single submitter spinal muscular atrophy with congenital bone fractures 2 ⚠
Benign 28
- c.113-123C>T Multiple submitters
- c.212+39C>A Multiple submitters
- c.213-722G>A Multiple submitters
- c.213-956G>A Multiple submitters
- c.213-961C>G Multiple submitters
- c.310+15A>T Multiple submitters
- c.489+16G>A Multiple submitters
- c.626+101A>G Multiple submitters
- c.626+134C>T Multiple submitters
- c.958-4824G>A Multiple submitters
- c.-33-154T>A Multiple submitters
- c.*108T>C Multiple submitters
- p.Asp34Asn Multiple submitters ⚠
- p.Glu301Asp Multiple submitters
- p.Tyr304Cys Multiple submitters
- c.112+235_112+237del Single submitter
- c.113-77C>T Single submitter
- c.212+17A>G Single submitter
- c.213-888G>A Single submitter
- c.213-938A>G Single submitter
- c.310+126dup Single submitter
- c.490-163T>C Single submitter
- c.958-5473C>T Single submitter
- c.958-5535dup Single submitter
- c.-33-234del Single submitter
- c.-33-241G>A Single submitter
- c.-33-243dup Single submitter
- p.Thr341= Single submitter
Benign/Likely benign 5
- c.747-4C>G Multiple submitters
- p.Asn290Ser Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Ser67Thr Multiple submitters
- p.Tyr238= Multiple submitters
- p.Tyr348= Multiple submitters
Likely benign 97
- c.213-935A>G Multiple submitters
- c.958-5422C>T Multiple submitters
- c.112+11T>C Single submitter
- c.113-18G>C Single submitter
- c.113-73_113-17dup Single submitter
- c.212+10G>A Single submitter
- c.212+9T>C Single submitter
- c.213-879T>A Single submitter
- c.213-897G>A Single submitter
- c.213-913A>G Single submitter
- c.213-965A>G Single submitter
- c.213-980C>G Single submitter
- c.213-980C>T Single submitter
- c.213-986G>A Single submitter
- c.213-987C>T Single submitter
- c.311-19C>G Single submitter
- c.489+12C>T Single submitter
- c.489+14837G>C Single submitter
- c.490-5A>G Single submitter
- c.490-7A>G Single submitter
- c.627-17T>A Single submitter
- c.627-19A>G Single submitter
- c.746+15T>G Single submitter
- c.746+16G>A Single submitter
- c.747-10A>C Single submitter
- c.747-19T>C Single submitter
- c.747-6C>A Single submitter
- c.871+10C>G Single submitter
- c.871+7C>A Single submitter
- c.871+8C>G Single submitter
- c.872-18T>C Single submitter
- c.957+17G>A Single submitter
- c.957+8T>A Single submitter
- c.958-4942C>G Single submitter
- c.958-4966A>G Single submitter
- c.958-4972T>G Single submitter
- c.958-4974A>G Single submitter
- c.958-4978C>G Single submitter
- c.958-4982dup Single submitter
- c.958-5382T>C Single submitter
- c.958-5393G>A Single submitter
- c.958-5394C>T Single submitter
- c.958-5416A>T Single submitter ⚠
- c.958-5418C>T Single submitter
- c.958-5425A>C Single submitter
- c.958-5427T>G Single submitter ⚠
- c.958-5429C>T Single submitter ⚠
- c.958-5431T>C Single submitter
- c.958-5452C>T Single submitter
- c.958-5461C>T Single submitter
- c.958-5478A>G Single submitter
- c.958-5482T>C Single submitter
- c.958-5505T>C Single submitter
- c.958-5534del Single submitter
- c.958-5534G>A Single submitter
- c.958-5534G>T Single submitter
- c.958-5535T>G Single submitter
- c.958-5536_958-5535dup Single submitter
- c.958-8C>T Single submitter
- p.Ala116= Single submitter
- p.Ala159= Single submitter
- p.Ala239= Single submitter
- p.Ala300= Single submitter
- p.Ala43= Single submitter
- p.Arg14= Single submitter
- p.Arg249Ser Single submitter ⚠
- p.Arg256= Single submitter
- p.Arg260= Single submitter
- p.Arg339= Single submitter
- p.Asp100= Single submitter
- p.Asp125= Single submitter
- p.Asp210= Single submitter
- p.Gln99= Single submitter
- p.Glu148= Single submitter
- p.Glu156= Single submitter
- p.Glu190= Single submitter
- p.Glu191Gln Single submitter ⚠
- p.Glu205= Single submitter
- p.Glu41= Single submitter
- p.Glu87= Single submitter
- p.Gly107= Single submitter
- p.Gly314= Single submitter
- p.Gly78= Single submitter
- p.Ile9= Single submitter
- p.Leu178= Single submitter
- p.Lys18= Single submitter
- p.Lys240= Single submitter
- p.Phe127= Single submitter
- p.Pro132= Single submitter
- p.Ser311= Single submitter
- p.Ser357= Single submitter
- p.Thr299= Single submitter
- p.Thr90= Single submitter
- p.Val254= Single submitter
- p.Val280= Single submitter
- p.Val3Ala Single submitter ⚠
- c.958-4915C>T No assertion criteria ASCC1-related disorder
Uncertain significance 75
- c.747-10A>G Multiple submitters spinal muscular atrophy with congenital bone fractures 2
- p.Ala300Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg14Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg260Cys Multiple submitters Barrett esophagus ⚠
- p.Arg77Ile Multiple submitters Inborn genetic diseases ⚠
- p.Gln131His Multiple submitters Inborn genetic diseases ⚠
- p.Gln24Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu102Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly302Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly327Val Multiple submitters Inborn genetic diseases
- p.His277Tyr Multiple submitters spinal muscular atrophy with congenital bone fractures 2 ⚠
- p.His28Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile305Val Multiple submitters Inborn genetic diseases ⚠
- c.113-6G>T Single submitter
- c.958-5438A>T Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala349Asp Single submitter Inborn genetic diseases
- p.Ala349Thr Single submitter
- p.Arg110Gln Single submitter ⚠
- p.Arg117Gln Single submitter Inborn genetic diseases ⚠
- p.Arg119Gln Single submitter Inborn genetic diseases ⚠
- p.Arg128Gln Single submitter ⚠
- p.Arg129Lys Single submitter ⚠
- p.Arg14Trp Single submitter Inborn genetic diseases ⚠
- p.Arg260His Single submitter ⚠
- p.Asn19Ser Single submitter Inborn genetic diseases ⚠
- p.Asn347Lys Single submitter Inborn genetic diseases
- p.Asp100Glu Single submitter ⚠
- p.Asp125His Single submitter Inborn genetic diseases ⚠
- p.Asp168His Single submitter ⚠
- p.Asp31Gly Single submitter Inborn genetic diseases ⚠
- p.Asp79Asn Single submitter ⚠
- p.Cys351Ser Single submitter
- p.Gln108Arg Single submitter ⚠
- p.Gln195His Single submitter ⚠
- p.Gln57Glu Single submitter ⚠
- p.Glu102Gln Single submitter Inborn genetic diseases ⚠
- p.Glu156Gly Single submitter Inborn genetic diseases ⚠
- p.Glu156Lys Single submitter Inborn genetic diseases ⚠
- p.Glu41Gly Single submitter ⚠
- p.Glu41Lys Single submitter ⚠
- p.Glu85Gly Single submitter ⚠
- p.Glu87Lys Single submitter Inborn genetic diseases ⚠
- p.Gly166Trp Single submitter Inborn genetic diseases ⚠
- p.Gly232Val Single submitter ⚠
- p.Gly302Val Single submitter Inborn genetic diseases ⚠
- p.Gly58Ala Single submitter Inborn genetic diseases ⚠
- p.His109Arg Single submitter ⚠
- p.His335Arg Single submitter Inborn genetic diseases
- p.Ile182Val Single submitter ⚠
- p.Ile211Val Single submitter Inborn genetic diseases ⚠
- p.Ile334Val Single submitter
- p.Ile9Val Single submitter ⚠
- p.Leu320Phe Single submitter
- p.Leu4Val Single submitter ⚠
- p.Lys319Asn Single submitter ⚠
- p.Met233Ile Single submitter Inborn genetic diseases ⚠
- p.Met40Ile Single submitter Inborn genetic diseases ⚠
- p.Phe285Leu Single submitter Inborn genetic diseases ⚠
- p.Phe306= Single submitter
- p.Pro216Leu Single submitter Inborn genetic diseases ⚠
- p.Ser189Thr Single submitter ⚠
- p.Ser337Cys Single submitter
- p.Ser91Phe Single submitter Inborn genetic diseases ⚠
- p.Thr181Ile Single submitter Inborn genetic diseases ⚠
- p.Thr341Ala Single submitter Inborn genetic diseases
- p.Trp271Ter Single submitter spinal muscular atrophy with congenital bone fractures 2
- p.Tyr295Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr325Cys Single submitter Inborn genetic diseases
- p.Tyr348Asp Single submitter Inborn genetic diseases
- p.Tyr70Cys Single submitter ⚠
- p.Val146Ala Single submitter Inborn genetic diseases ⚠
- p.Val157Ile Single submitter Inborn genetic diseases ⚠
- p.Val342Leu Single submitter Inborn genetic diseases
- p.Val3Leu Single submitter ⚠