TAC3 — 42 ClinVar variants
All ClinVar germline TAC3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 21 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 2 Conflicting · 7 Benign · 7 Likely benign · 22 Uncertain significance
Full TAC3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 21
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TAC3 p.Gln45Arg
Uncertain significance
Multiple submitters
hypogonadotropic hypogonadism 10 with or without anosmia
- TAC3 p.Ala21Asp Uncertain significance Single submitter
- TAC3 p.Arg36Cys Uncertain significance Single submitter
-
TAC3 p.Arg80Cys
Uncertain significance
Single submitter
hypogonadotropic hypogonadism 10 with or without anosmia
- TAC3 p.Glu29Lys Uncertain significance Single submitter
- TAC3 p.Glu73Gly Uncertain significance Single submitter
- TAC3 p.Glu73Val Uncertain significance Single submitter
-
TAC3 p.Glu78Lys
Uncertain significance
Single submitter
TAC3-related disorder
- TAC3 p.Gly91Asp Uncertain significance Single submitter
- TAC3 p.His54Tyr Uncertain significance Single submitter
- TAC3 p.Met4Leu Uncertain significance Single submitter
- TAC3 p.Pro109His Uncertain significance Single submitter
- TAC3 p.Pro109Ser Uncertain significance Single submitter
- TAC3 p.Pro117Ser Uncertain significance Single submitter
- TAC3 p.Pro118Leu Uncertain significance Single submitter
- TAC3 p.Pro118Ser Uncertain significance Single submitter
- TAC3 p.Thr69Ile Uncertain significance Single submitter
- TAC3 p.Val108Ile Uncertain significance Single submitter
- TAC3 p.Val31Leu Uncertain significance Single submitter
Predictors split 2
The independent predictors disagree with each other — read with care.
- TAC3 p.Ser18Arg Uncertain significance Single submitter
-
TAC3 p.Met90Thr
Pathogenic
No assertion criteria
HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA
All TAC3 variants
Pathogenic 2
- p.Ala21fs No assertion criteria hypogonadotropic hypogonadism 10 with or without anosmia
- p.Met90Thr No assertion criteria HYPOGONADOTROPIC HYPOGONADISM 10 WITHOUT ANOSMIA ⚠
Likely pathogenic 2
- c.238+1G>C Single submitter
- p.Arg80Ser Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
Conflicting classifications of pathogenicity 2
- c.209-1G>C Single submitter hypogonadotropic hypogonadism
- p.His83Arg Single submitter Delayed puberty
Benign 7
- c.114+87G>T Multiple submitters
- c.292+162A>G Multiple submitters
- c.*19C>T Multiple submitters
- p.Ser99Pro Multiple submitters
- c.114+229C>T Single submitter
- c.293-13C>T Single submitter
- c.-26C>T Single submitter
Likely benign 7
- c.114+200T>C Single submitter
- c.208+14C>T Single submitter
- c.208+9C>T Single submitter
- c.*2T>C Single submitter
- p.Asn107= Single submitter
- p.Pro77= Single submitter
- p.Gly33= No assertion criteria TAC3-related disorder
Uncertain significance 22
- p.Gln45Arg Multiple submitters hypogonadotropic hypogonadism 10 with or without anosmia ⚠
- p.Ala21Asp Single submitter ⚠
- p.Ala67Pro Single submitter
- p.Arg36Cys Single submitter ⚠
- p.Arg80Cys Single submitter hypogonadotropic hypogonadism 10 with or without anosmia ⚠
- p.Glu29Lys Single submitter ⚠
- p.Glu73Gly Single submitter ⚠
- p.Glu73Val Single submitter ⚠
- p.Glu78Lys Single submitter TAC3-related disorder ⚠
- p.Gly91Asp Single submitter ⚠
- p.His54Tyr Single submitter ⚠
- p.Leu47Pro Single submitter
- p.Met4Leu Single submitter ⚠
- p.Pro109His Single submitter ⚠
- p.Pro109Ser Single submitter ⚠
- p.Pro117Ser Single submitter ⚠
- p.Pro118Leu Single submitter ⚠
- p.Pro118Ser Single submitter ⚠
- p.Ser18Arg Single submitter ⚠
- p.Thr69Ile Single submitter ⚠
- p.Val108Ile Single submitter ⚠
- p.Val31Leu Single submitter ⚠