ATXN10 — 45 ClinVar variants
All ClinVar germline ATXN10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
3 Pathogenic · 17 Benign · 9 Likely benign · 16 Uncertain significance
Full ATXN10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 8
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ATXN10 p.Met179Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ATXN10 p.Arg5Gly
Uncertain significance
Single submitter
spinocerebellar ataxia type 10
-
ATXN10 p.Asp113Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN10 p.Ile251Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN10 p.Pro4Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN10 p.Ser352Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ATXN10 p.Thr303Ile Uncertain significance Single submitter
-
ATXN10 p.Gly135Val
Uncertain significance
No assertion criteria
spinocerebellar ataxia type 10
Predictors split 4
The independent predictors disagree with each other — read with care.
-
ATXN10 p.Arg27Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN10 p.Ile46Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN10 p.Leu11Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ATXN10 p.Val309Ile
Likely benign
Single submitter
Inborn genetic diseases
All ATXN10 variants
Pathogenic 3
- c.1173+54822_1173+54826ATTCT(360_370 No assertion criteria spinocerebellar ataxia type 10
- c.1173+54822_1173+54826ATTCT(400_760 No assertion criteria spinocerebellar ataxia type 10
- c.1173+54822_1173+54826ATTCT[850] No assertion criteria spinocerebellar ataxia type 10
Benign 17
- c.116+85G>A Multiple submitters
- c.1173+179C>T Multiple submitters
- c.1173+181C>T Multiple submitters
- c.1173+191C>T Multiple submitters
- c.1173+201C>T Multiple submitters
- c.1237+23A>G Multiple submitters
- c.648-49C>T Multiple submitters
- c.728+25G>T Multiple submitters
- c.1003+214G>A Single submitter
- c.1173+142AC[17] Single submitter
- c.1173+142AC[18] Single submitter
- c.1173+202GT[9] Single submitter
- c.1173+217TA[7] Single submitter
- c.392-165A>G Single submitter
- c.392-219T>C Single submitter
- c.648-146C>T Single submitter
- c.1173+54822_1173ATTCT[10_32] No assertion criteria spinocerebellar ataxia type 10
Likely benign 9
- p.Phe351= Multiple submitters
- p.Thr107= Multiple submitters spinocerebellar ataxia type 10
- c.894+10G>T Single submitter
- p.Asp296= Single submitter
- p.Phe326= Single submitter
- p.Val309Ile Single submitter Inborn genetic diseases ⚠
- p.Leu26= No assertion criteria
- p.Leu54= No assertion criteria ATXN10-related disorder
- p.Ser277Arg No assertion criteria ATXN10-related disorder
Uncertain significance 16
- p.Met179Val Multiple submitters Inborn genetic diseases ⚠
- c.1174-11604ATTCT[13] Single submitter spinocerebellar ataxia type 10
- c.647+1G>A Single submitter spinocerebellar ataxia type 10
- c.647+2dup Single submitter Inborn genetic diseases
- p.Arg27Cys Single submitter Inborn genetic diseases ⚠
- p.Arg5Gly Single submitter spinocerebellar ataxia type 10 ⚠
- p.Asp113Gly Single submitter Inborn genetic diseases ⚠
- p.Gln389Ter Single submitter spinocerebellar ataxia type 10
- p.Ile251Thr Single submitter Inborn genetic diseases ⚠
- p.Ile46Met Single submitter Inborn genetic diseases ⚠
- p.Leu11Met Single submitter Inborn genetic diseases ⚠
- p.Pro4Arg Single submitter Inborn genetic diseases ⚠
- p.Ser352Thr Single submitter Inborn genetic diseases ⚠
- p.Thr303Ile Single submitter ⚠
- p.Thr317fs Single submitter
- p.Gly135Val No assertion criteria spinocerebellar ataxia type 10 ⚠