Sugi Variant

Sugi Variant/TANC2

TANC2 — 600 ClinVar variants

All ClinVar germline TANC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 368 flagged for review →

13 Pathogenic · 4 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 8 Conflicting · 9 Benign · 2 Benign/Likely benign · 112 Likely benign · 424 Uncertain significance

Full TANC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 368

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 263

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 263

Predictors split 97

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

All TANC2 variants

Pathogenic 13

  • c.1441+1G>A Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • c.2583-1G>A Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Arg1563fs Single submitter Inborn genetic diseases
  • p.Arg32Ter Single submitter
  • p.Asp31fs Single submitter
  • p.Gln1759Ter Single submitter
  • p.Glu807Ter Single submitter
  • p.Glu885Ter Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Gly1545fs Single submitter
  • p.Leu354fs Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Trp288Ter Single submitter
  • p.Trp646Ter Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • c.2691+1G>T No assertion criteria intellectual developmental disorder with autistic features and language delay, with or without seizures

Pathogenic/Likely pathogenic 4

  • c.769+1G>A No assertion criteria autism spectrum disorder
  • p.Arg1553fs No assertion criteria INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES
  • p.Gln1567fs No assertion criteria intellectual disability
  • p.Gln1567Ter No assertion criteria INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES

Likely pathogenic 28

  • p.Ser375fs Multiple submitters intellectual developmental disorder with autistic features and language delay, with or without seizures
  • c.139+2T>A Single submitter
  • c.1441+5G>A Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • c.2582+2T>G Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • c.5114_5118del Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • c.98dup Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Ala496Thr Single submitter ⚠
  • p.Arg1383fs Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Arg1784Ter Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Arg1790Ter Single submitter
  • p.Arg370Ter Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Asp736Ter Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Gln1745Ter Single submitter Inborn genetic diseases
  • p.Gln682fs Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Glu603fs Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Gly71= Single submitter
  • p.His889fs Single submitter
  • p.Ser196Ter Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Ser805fs Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Thr1913fs Single submitter Inborn genetic diseases
  • c.1589_1590delGA No assertion criteria epilepsy
  • c.3765+1G>T No assertion criteria intellectual disability
  • c.4268+2T>G No assertion criteria neurodevelopmental disorder
  • p.Cys858fs No assertion criteria Developmental delay
  • p.Gln1484Ter No assertion criteria Intellectual Disability with multiple congenital anomalies
  • p.Gln1656fs No assertion criteria neurodevelopmental disorder
  • p.Glu1361fs No assertion criteria Developmental delay
  • p.Phe1866delinsCysIleProLysValTer No assertion criteria Developmental delay

Conflicting classifications of pathogenicity 8

  • p.Arg1865His Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures
  • p.Arg514Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn802Ser Single submitter Inborn genetic diseases ⚠
  • p.Gln360Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile500Val Single submitter Inborn genetic diseases ⚠
  • p.Ile632Val Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures ⚠
  • p.Ser1840Asn Single submitter intellectual developmental disorder with autistic features and language delay, with or without seizures ⚠
  • p.Ser2026Ala Single submitter Inborn genetic diseases ⚠

Benign 9

Benign/Likely benign 2

Likely benign 112

Uncertain significance 424

Showing the top 300 by review status; the full set is in the sitemap.