DPPA2 — 57 ClinVar variants
All ClinVar germline DPPA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Likely pathogenic · 1 Benign · 5 Likely benign · 50 Uncertain significance
Full DPPA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DPPA2 p.Arg142Thr Uncertain significance Single submitter
- DPPA2 p.Arg145Gln Uncertain significance Single submitter
- DPPA2 p.Asn59His Uncertain significance Single submitter
- DPPA2 p.Asn59Ser Uncertain significance Single submitter
- DPPA2 p.Cys96Arg Uncertain significance Single submitter
- DPPA2 p.Gln198Arg Uncertain significance Single submitter
- DPPA2 p.Gln247His Uncertain significance Single submitter
- DPPA2 p.Glu68Lys Uncertain significance Single submitter
- DPPA2 p.Gly246Val Uncertain significance Single submitter
- DPPA2 p.His125Arg Uncertain significance Single submitter
- DPPA2 p.His62Arg Uncertain significance Single submitter
- DPPA2 p.His62Pro Uncertain significance Single submitter
- DPPA2 p.His62Tyr Uncertain significance Single submitter
- DPPA2 p.Ile267Leu Uncertain significance Single submitter
- DPPA2 p.Ile273Val Uncertain significance Single submitter
- DPPA2 p.Ile92Val Uncertain significance Single submitter
- DPPA2 p.Leu143Ser Uncertain significance Single submitter
- DPPA2 p.Leu202Trp Uncertain significance Single submitter
- DPPA2 p.Leu63Val Uncertain significance Single submitter
- DPPA2 p.Lys79Glu Uncertain significance Single submitter
- DPPA2 p.Met137Leu Uncertain significance Single submitter
- DPPA2 p.Met289Val Uncertain significance Single submitter
- DPPA2 p.Met37Lys Uncertain significance Single submitter
- DPPA2 p.Met40Ile Uncertain significance Single submitter
- DPPA2 p.Ser162Thr Uncertain significance Single submitter
- DPPA2 p.Ser188Thr Uncertain significance Single submitter
- DPPA2 p.Ser2Thr Uncertain significance Single submitter
- DPPA2 p.Ser9Asn Uncertain significance Single submitter
- DPPA2 p.Val211Ile Uncertain significance Single submitter
- DPPA2 p.Val221Ile Uncertain significance Single submitter
- DPPA2 p.Val296Ala Uncertain significance Single submitter
- DPPA2 p.Val44Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- DPPA2 p.Arg131Trp Uncertain significance Single submitter
- DPPA2 p.Arg150Cys Uncertain significance Single submitter
- DPPA2 p.Arg150His Uncertain significance Single submitter
- DPPA2 p.Arg240His Uncertain significance Single submitter
- DPPA2 p.Arg97Gln Uncertain significance Single submitter
- DPPA2 p.Arg97Pro Uncertain significance Single submitter
- DPPA2 p.Asp281His Uncertain significance Single submitter
- DPPA2 p.Glu117Lys Uncertain significance Single submitter
- DPPA2 p.Glu212Gly Uncertain significance Single submitter
- DPPA2 p.Gly237Ser Uncertain significance Single submitter
- DPPA2 p.Leu107His Uncertain significance Single submitter
- DPPA2 p.Leu263Ser Uncertain significance Single submitter
- DPPA2 p.Phe243Cys Uncertain significance Single submitter
- DPPA2 p.Phe243Ser Uncertain significance Single submitter
- DPPA2 p.Pro269Gln Uncertain significance Single submitter
- DPPA2 p.Ser110Asn Uncertain significance Single submitter
- DPPA2 p.Thr253Ala Uncertain significance Single submitter
- DPPA2 p.Val250Leu Uncertain significance Single submitter
All DPPA2 variants
Likely pathogenic 1
- p.Leu278Ser Single submitter primary ovarian failure
Benign 1
- p.Arg131Gln Multiple submitters
Likely benign 5
- p.Arg77Ser Single submitter
- p.Cys96Ser Single submitter
- p.Ile267Thr Single submitter
- p.Lys236Glu Single submitter
- p.Met289Ile Single submitter
Uncertain significance 50
- p.Arg131Trp Single submitter ⚠
- p.Arg142Thr Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg150Cys Single submitter ⚠
- p.Arg150His Single submitter ⚠
- p.Arg240His Single submitter ⚠
- p.Arg97Gln Single submitter ⚠
- p.Arg97Pro Single submitter ⚠
- p.Asn59His Single submitter ⚠
- p.Asn59Ser Single submitter ⚠
- p.Asp281His Single submitter ⚠
- p.Cys96Arg Single submitter ⚠
- p.Gln198Arg Single submitter ⚠
- p.Gln247His Single submitter ⚠
- p.Glu117Lys Single submitter ⚠
- p.Glu212Gly Single submitter ⚠
- p.Glu68Lys Single submitter ⚠
- p.Gly237Ser Single submitter ⚠
- p.Gly246Val Single submitter ⚠
- p.His125Arg Single submitter ⚠
- p.His62Arg Single submitter ⚠
- p.His62Pro Single submitter ⚠
- p.His62Tyr Single submitter ⚠
- p.Ile267Leu Single submitter ⚠
- p.Ile273Val Single submitter ⚠
- p.Ile92Val Single submitter ⚠
- p.Leu107His Single submitter ⚠
- p.Leu143Ser Single submitter ⚠
- p.Leu202Trp Single submitter ⚠
- p.Leu263Ser Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Lys79Glu Single submitter ⚠
- p.Met137Leu Single submitter ⚠
- p.Met289Val Single submitter ⚠
- p.Met37Lys Single submitter ⚠
- p.Met40Ile Single submitter ⚠
- p.Phe243Cys Single submitter ⚠
- p.Phe243Ser Single submitter ⚠
- p.Pro269Gln Single submitter ⚠
- p.Ser110Asn Single submitter ⚠
- p.Ser162Thr Single submitter ⚠
- p.Ser188Thr Single submitter ⚠
- p.Ser2Thr Single submitter ⚠
- p.Ser9Asn Single submitter ⚠
- p.Thr253Ala Single submitter ⚠
- p.Val211Ile Single submitter ⚠
- p.Val221Ile Single submitter ⚠
- p.Val250Leu Single submitter ⚠
- p.Val296Ala Single submitter ⚠
- p.Val44Ile Single submitter ⚠