BPIFA2 — 40 ClinVar variants
All ClinVar germline BPIFA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
2 Benign · 5 Likely benign · 33 Uncertain significance
Full BPIFA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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.
- BPIFA2 p.Ala131Val Uncertain significance Single submitter
- BPIFA2 p.Ala155Thr Uncertain significance Single submitter
- BPIFA2 p.Asp118Asn Uncertain significance Single submitter
- BPIFA2 p.Asp28Glu Uncertain significance Single submitter
- BPIFA2 p.Gln3Pro Uncertain significance Single submitter
- BPIFA2 p.Gln66Arg Uncertain significance Single submitter
- BPIFA2 p.Glu115Lys Uncertain significance Single submitter
- BPIFA2 p.Gly53Asp Uncertain significance Single submitter
- BPIFA2 p.Ile193Leu Uncertain significance Single submitter
- BPIFA2 p.Ile99Val Uncertain significance Single submitter
- BPIFA2 p.Leu40Val Uncertain significance Single submitter
- BPIFA2 p.Leu73Val Uncertain significance Single submitter
- BPIFA2 p.Pro138Leu Uncertain significance Single submitter
- BPIFA2 p.Pro239Ser Uncertain significance Single submitter
- BPIFA2 p.Thr247Asn Uncertain significance Single submitter
- BPIFA2 p.Val168Ile Uncertain significance Single submitter
- BPIFA2 p.Val231Ile Uncertain significance Single submitter
- BPIFA2 p.Val236Phe Uncertain significance Single submitter
- BPIFA2 p.Val60Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- BPIFA2 p.Ala155Pro Uncertain significance Single submitter
- BPIFA2 p.Asp187Glu Uncertain significance Single submitter
- BPIFA2 p.Ile158Thr Uncertain significance Single submitter
- BPIFA2 p.Ile181Asn Uncertain significance Single submitter
- BPIFA2 p.Leu227Pro Uncertain significance Single submitter
- BPIFA2 p.Leu51Phe Uncertain significance Single submitter
- BPIFA2 p.Lys91Arg Uncertain significance Single submitter
- BPIFA2 p.Pro178Thr Uncertain significance Single submitter
- BPIFA2 p.Thr15Pro Uncertain significance Single submitter
- BPIFA2 p.Thr203Met Uncertain significance Single submitter
- BPIFA2 p.Thr97Met Uncertain significance Single submitter
- BPIFA2 p.Val170Ile Uncertain significance Single submitter
- BPIFA2 p.Val200Met Uncertain significance Single submitter
- BPIFA2 p.Val236Asp Uncertain significance Single submitter
All BPIFA2 variants
Benign 2
- p.Gly101= Multiple submitters
- c.646-9del Single submitter
Likely benign 5
- p.Arg221His Single submitter
- p.Ile158Val Single submitter
- p.Ile216Val Single submitter
- p.Lys52Glu Single submitter
- p.Phe100Leu Single submitter
Uncertain significance 33
- p.Ala131Val Single submitter ⚠
- p.Ala155Pro Single submitter ⚠
- p.Ala155Thr Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp187Glu Single submitter ⚠
- p.Asp28Glu Single submitter ⚠
- p.Gln3Pro Single submitter ⚠
- p.Gln66Arg Single submitter ⚠
- p.Glu115Lys Single submitter ⚠
- p.Gly53Asp Single submitter ⚠
- p.Ile158Thr Single submitter ⚠
- p.Ile181Asn Single submitter ⚠
- p.Ile193Leu Single submitter ⚠
- p.Ile99Val Single submitter ⚠
- p.Leu227Pro Single submitter ⚠
- p.Leu40Val Single submitter ⚠
- p.Leu51Phe Single submitter ⚠
- p.Leu73Val Single submitter ⚠
- p.Lys91Arg Single submitter ⚠
- p.Pro138Leu Single submitter ⚠
- p.Pro178Thr Single submitter ⚠
- p.Pro239Ser Single submitter ⚠
- p.Thr15Pro Single submitter ⚠
- p.Thr203Met Single submitter ⚠
- p.Thr247Asn Single submitter ⚠
- p.Thr97Met Single submitter ⚠
- p.Val168Ile Single submitter ⚠
- p.Val170Ile Single submitter ⚠
- p.Val200Met Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val236Asp Single submitter ⚠
- p.Val236Phe Single submitter ⚠
- p.Val60Ile Single submitter ⚠