ANKRD54 — 42 ClinVar variants
All ClinVar germline ANKRD54 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
1 Benign · 2 Likely benign · 39 Uncertain significance
Full ANKRD54 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ANKRD54 p.Ala134Thr Uncertain significance Single submitter
- ANKRD54 p.Ala233Val Uncertain significance Single submitter
- ANKRD54 p.Ala40Thr Uncertain significance Single submitter
- ANKRD54 p.Ala88Thr Uncertain significance Single submitter
- ANKRD54 p.Arg144Cys Uncertain significance Single submitter
- ANKRD54 p.Arg172Gln Uncertain significance Single submitter
- ANKRD54 p.Asp206Ala Uncertain significance Single submitter
- ANKRD54 p.Asp7Glu Uncertain significance Single submitter
- ANKRD54 p.Gln295Glu Uncertain significance Single submitter
- ANKRD54 p.Gln62Pro Uncertain significance Single submitter
- ANKRD54 p.Glu28Gly Uncertain significance Single submitter
- ANKRD54 p.Gly105Val Uncertain significance Single submitter
- ANKRD54 p.Gly15Ser Uncertain significance Single submitter
- ANKRD54 p.Gly43Arg Uncertain significance Single submitter
- ANKRD54 p.Gly60Glu Uncertain significance Single submitter
- ANKRD54 p.His243Tyr Uncertain significance Single submitter
- ANKRD54 p.Ile158Thr Uncertain significance Single submitter
- ANKRD54 p.Leu101Arg Uncertain significance Single submitter
- ANKRD54 p.Leu147Ile Uncertain significance Single submitter
- ANKRD54 p.Pro212Ala Uncertain significance Single submitter
- ANKRD54 p.Pro212Thr Uncertain significance Single submitter
- ANKRD54 p.Pro64Leu Uncertain significance Single submitter
- ANKRD54 p.Pro87Ser Uncertain significance Single submitter
- ANKRD54 p.Pro87Thr Uncertain significance Single submitter
- ANKRD54 p.Ser54Leu Uncertain significance Single submitter
- ANKRD54 p.Thr178Met Uncertain significance Single submitter
- ANKRD54 p.Thr266Ser Uncertain significance Single submitter
- ANKRD54 p.Val189Ile Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- ANKRD54 p.Arg235His Uncertain significance Single submitter
- ANKRD54 p.Arg251Cys Uncertain significance Single submitter
- ANKRD54 p.Arg260Cys Uncertain significance Single submitter
- ANKRD54 p.Arg260His Uncertain significance Single submitter
- ANKRD54 p.Arg92Ser Uncertain significance Single submitter
- ANKRD54 p.Asn187Lys Uncertain significance Single submitter
- ANKRD54 p.His214Tyr Uncertain significance Single submitter
- ANKRD54 p.Phe39Leu Uncertain significance Single submitter
- ANKRD54 p.Ser117Leu Uncertain significance Single submitter
- ANKRD54 p.Val108Gly Uncertain significance Single submitter
- ANKRD54 p.Val191Ile Uncertain significance Single submitter
All ANKRD54 variants
Benign 1
- p.Leu163= Multiple submitters
Likely benign 2
- p.Ala134Val Single submitter
- p.Ser296Asn Single submitter
Uncertain significance 39
- p.Ala134Thr Single submitter ⚠
- p.Ala233Val Single submitter ⚠
- p.Ala40Thr Single submitter ⚠
- p.Ala88Thr Single submitter ⚠
- p.Arg144Cys Single submitter ⚠
- p.Arg172Gln Single submitter ⚠
- p.Arg235His Single submitter ⚠
- p.Arg251Cys Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg260His Single submitter ⚠
- p.Arg92Ser Single submitter ⚠
- p.Asn187Lys Single submitter ⚠
- p.Asp206Ala Single submitter ⚠
- p.Asp7Glu Single submitter ⚠
- p.Gln295Glu Single submitter ⚠
- p.Gln62Pro Single submitter ⚠
- p.Glu28Gly Single submitter ⚠
- p.Gly105Val Single submitter ⚠
- p.Gly15Ser Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Gly60Glu Single submitter ⚠
- p.His214Tyr Single submitter ⚠
- p.His243Tyr Single submitter ⚠
- p.Ile158Thr Single submitter ⚠
- p.Leu101Arg Single submitter ⚠
- p.Leu147Ile Single submitter ⚠
- p.Phe39Leu Single submitter ⚠
- p.Pro212Ala Single submitter ⚠
- p.Pro212Thr Single submitter ⚠
- p.Pro64Leu Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Pro87Thr Single submitter ⚠
- p.Ser117Leu Single submitter ⚠
- p.Ser54Leu Single submitter ⚠
- p.Thr178Met Single submitter ⚠
- p.Thr266Ser Single submitter ⚠
- p.Val108Gly Single submitter ⚠
- p.Val189Ile Single submitter ⚠
- p.Val191Ile Single submitter ⚠