Sugi Variant

Sugi Variant/CEACAM16

CEACAM16 — 303 ClinVar variants

All ClinVar germline CEACAM16 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 180 flagged for review →

9 Pathogenic · 7 Likely pathogenic · 27 Conflicting · 25 Benign · 14 Benign/Likely benign · 63 Likely benign · 158 Uncertain significance

Full CEACAM16 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 180

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 6

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 62

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 96

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

All CEACAM16 variants

Pathogenic 9

  • c.662-1G>C Single submitter hearing loss, autosomal recessive 113
  • p.Arg146Ter Single submitter hearing loss, autosomal recessive
  • p.Gln109Ter Single submitter
  • p.Gln275Ter Single submitter hearing loss, autosomal recessive 113
  • p.Gln287fs Single submitter
  • p.Phe244Ter Single submitter
  • p.Arg255Gly No assertion criteria autosomal dominant nonsyndromic hearing loss 4B ⚠
  • p.Gly169Arg No assertion criteria autosomal dominant nonsyndromic hearing loss 4B ⚠
  • p.Thr140Pro No assertion criteria autosomal dominant nonsyndromic hearing loss 4B ⚠

Likely pathogenic 7

  • p.Ala13Ser Single submitter hearing loss, autosomal recessive 113 ⚠
  • p.Ala375fs Single submitter nonsyndromic genetic hearing loss
  • p.Arg235fs Single submitter autosomal dominant nonsyndromic hearing loss 4B
  • p.Cys153Ter Single submitter ear malformation
  • p.His127Arg Single submitter ⚠
  • p.Thr396Ala Single submitter Rare genetic deafness ⚠
  • p.Tyr401Ter Single submitter autosomal dominant nonsyndromic hearing loss 4B

Conflicting classifications of pathogenicity 27

Benign 25

Benign/Likely benign 14

Likely benign 63

Uncertain significance 158