ASCL1 — 59 ClinVar variants
All ClinVar germline ASCL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
1 Conflicting · 3 Benign · 5 Benign/Likely benign · 15 Likely benign · 35 Uncertain significance
Full ASCL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ASCL1 p.Ala45Val Uncertain significance Single submitter
- ASCL1 p.Ala63Glu Uncertain significance Single submitter
- ASCL1 p.Ala69Val Uncertain significance Single submitter
- ASCL1 p.Ala82Glu Uncertain significance Single submitter
- ASCL1 p.Ala82Val Uncertain significance Single submitter
- ASCL1 p.Arg67Ile Uncertain significance Single submitter
- ASCL1 p.Asn196Asp Uncertain significance Single submitter
- ASCL1 p.Asn196Lys Uncertain significance Single submitter
- ASCL1 p.Asp71Asn Uncertain significance Single submitter
- ASCL1 p.Gln22Leu Uncertain significance Single submitter
- ASCL1 p.Gly78Cys Uncertain significance Single submitter
- ASCL1 p.Ile167Met Uncertain significance Single submitter
- ASCL1 p.Leu133Val Uncertain significance Single submitter
- ASCL1 p.Pro117Gln Uncertain significance Single submitter
- ASCL1 p.Pro18Ala Uncertain significance Single submitter
- ASCL1 p.Pro195Ser Uncertain significance Single submitter
- ASCL1 p.Ser106Thr Uncertain significance Single submitter
- ASCL1 p.Ser207Trp Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
-
ASCL1 p.Ala41Ser
Likely benign
Multiple submitters
Hereditary cancer
- ASCL1 p.Ala139Val Uncertain significance Single submitter
-
ASCL1 p.Ala39Thr
Uncertain significance
Single submitter
Haddad syndrome
- ASCL1 p.Ala43Thr Uncertain significance Single submitter
- ASCL1 p.Asp175Glu Uncertain significance Single submitter
- ASCL1 p.Gln17His Uncertain significance Single submitter
- ASCL1 p.Gln19His Uncertain significance Single submitter
- ASCL1 p.Gln59Glu Likely benign Single submitter
- ASCL1 p.Glu226Asp Uncertain significance Single submitter
- ASCL1 p.Glu2Lys Uncertain significance Single submitter
- ASCL1 p.Met97Ile Uncertain significance Single submitter
- ASCL1 p.Pro16His Uncertain significance Single submitter
- ASCL1 p.Thr34Arg Uncertain significance Single submitter
-
ASCL1 p.Pro18Thr
Uncertain significance
No assertion criteria
central hypoventilation syndrome, congenital
All ASCL1 variants
Conflicting classifications of pathogenicity 1
- p.Gln62_Ala63insGlnGlnGlnGln Single submitter
Benign 3
- c.-197T>C Multiple submitters
- p.Gln62_Ala63insGlnGlnGln Multiple submitters
- p.Val209= Multiple submitters
Benign/Likely benign 5
- p.Ala41= Multiple submitters
- p.Gln60_Gln62del Multiple submitters
- p.Gln61_Gln62del Multiple submitters
- p.Gln62_Ala63insGln Multiple submitters central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
- p.Gln62_Ala63insGlnGln Multiple submitters
Likely benign 15
- p.Ala41Ser Multiple submitters Hereditary cancer ⚠
- p.Ala46= Multiple submitters
- p.Gln56_Gln62del Multiple submitters
- p.Gln58_Gln62del Multiple submitters
- p.Gln59_Gln62del Multiple submitters phenylketonuria
- p.Ala43= Single submitter
- p.Ala43_Ala47del Single submitter central hypoventilation syndrome, congenital
- p.Arg88= Single submitter
- p.Gln55_Gln62del Single submitter
- p.Gln59Glu Single submitter ⚠
- p.Gln62del Single submitter
- p.Leu230= Single submitter
- p.Pro27= Single submitter
- p.Ala41_Ala47del No assertion criteria ASCL1-related disorder
- p.Gln62_Ala63insGlnGlnGlnGlnGlnGlnGlnGlnGln No assertion criteria ASCL1-related disorder
Uncertain significance 35
- p.Gln62_Ala63insGlnGlnGlnGlnGln Multiple submitters
- p.Ala139Val Single submitter ⚠
- p.Ala39Thr Single submitter Haddad syndrome ⚠
- p.Ala43Thr Single submitter ⚠
- p.Ala44_Ala47del Single submitter
- p.Ala45Val Single submitter ⚠
- p.Ala63Glu Single submitter ⚠
- p.Ala69Val Single submitter ⚠
- p.Ala82Glu Single submitter ⚠
- p.Ala82Val Single submitter ⚠
- p.Arg67Ile Single submitter ⚠
- p.Asn196Asp Single submitter ⚠
- p.Asn196Lys Single submitter ⚠
- p.Asp175Glu Single submitter ⚠
- p.Asp71Asn Single submitter ⚠
- p.Gln17His Single submitter ⚠
- p.Gln19His Single submitter ⚠
- p.Gln22Leu Single submitter ⚠
- p.Glu226Asp Single submitter ⚠
- p.Glu2Lys Single submitter ⚠
- p.Gly78Cys Single submitter ⚠
- p.Ile167Met Single submitter ⚠
- p.Leu133Val Single submitter ⚠
- p.Met7Ile Single submitter
- p.Met97Ile Single submitter ⚠
- p.Pro117Gln Single submitter ⚠
- p.Pro16His Single submitter ⚠
- p.Pro18Ala Single submitter ⚠
- p.Pro195Ser Single submitter ⚠
- p.Ser106Thr Single submitter ⚠
- p.Ser207Trp Single submitter ⚠
- p.Thr34Arg Single submitter ⚠
- p.Ala40_Ala47del No assertion criteria Haddad syndrome
- p.Gln62_Ala63insGlnGlnGlnGlnGlnGlnGln No assertion criteria ASCL1-related disorder
- p.Pro18Thr No assertion criteria central hypoventilation syndrome, congenital ⚠