BPIFA3 — 46 ClinVar variants
All ClinVar germline BPIFA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
4 Benign · 7 Likely benign · 35 Uncertain significance
Full BPIFA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BPIFA3 p.Ala140Val Uncertain significance Single submitter
- BPIFA3 p.Ala20Ser Uncertain significance Single submitter
- BPIFA3 p.Ala73Thr Uncertain significance Single submitter
- BPIFA3 p.Asn67Ser Uncertain significance Single submitter
- BPIFA3 p.Asp132His Uncertain significance Single submitter
- BPIFA3 p.Gln87Arg Uncertain significance Single submitter
- BPIFA3 p.Gly163Arg Uncertain significance Single submitter
- BPIFA3 p.Gly47Asp Uncertain significance Single submitter
- BPIFA3 p.His141Leu Uncertain significance Single submitter
- BPIFA3 p.His86Gln Uncertain significance Single submitter
- BPIFA3 p.Ile135Val Uncertain significance Single submitter
- BPIFA3 p.Ile181Val Uncertain significance Single submitter
- BPIFA3 p.Leu223Pro Uncertain significance Single submitter
- BPIFA3 p.Met142Ile Uncertain significance Single submitter
- BPIFA3 p.Pro18Leu Uncertain significance Single submitter
- BPIFA3 p.Pro244Ala Uncertain significance Single submitter
- BPIFA3 p.Pro244Ser Uncertain significance Single submitter
- BPIFA3 p.Ser116Leu Uncertain significance Single submitter
- BPIFA3 p.Ser171Asn Uncertain significance Single submitter
- BPIFA3 p.Ser82Asn Uncertain significance Single submitter
- BPIFA3 p.Ser82Thr Uncertain significance Single submitter
- BPIFA3 p.Val145Ile Uncertain significance Single submitter
- BPIFA3 p.Val146Leu Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- BPIFA3 p.Ala53Thr Uncertain significance Single submitter
- BPIFA3 p.Gln46Pro Uncertain significance Single submitter
- BPIFA3 p.Gly13Glu Uncertain significance Single submitter
- BPIFA3 p.Gly163Ser Uncertain significance Single submitter
- BPIFA3 p.His141Pro Uncertain significance Single submitter
- BPIFA3 p.His234Tyr Likely benign Single submitter
- BPIFA3 p.Ile94Thr Uncertain significance Single submitter
- BPIFA3 p.Leu177Phe Uncertain significance Single submitter
- BPIFA3 p.Leu196Val Uncertain significance Single submitter
- BPIFA3 p.Leu76Met Likely benign Single submitter
- BPIFA3 p.Leu9Phe Uncertain significance Single submitter
- BPIFA3 p.Phe62Ser Uncertain significance Single submitter
- BPIFA3 p.Ser55Ile Uncertain significance Single submitter
- BPIFA3 p.Thr178Pro Uncertain significance Single submitter
-
BPIFA3 p.Pro201Leu
Benign
No assertion criteria
BPIFA3-related disorder
All BPIFA3 variants
Benign 4
- p.Cys165Ter No assertion criteria BPIFA3-related disorder
- p.Pro201Leu No assertion criteria BPIFA3-related disorder ⚠
- p.Ser109Ter No assertion criteria BPIFA3-related disorder
- p.Val136Ile No assertion criteria BPIFA3-related disorder
Likely benign 7
- p.Asp132Asn Single submitter
- p.Gly83Ser Single submitter
- p.His234Tyr Single submitter ⚠
- p.Leu76Met Single submitter ⚠
- p.Met203Leu Single submitter
- p.Pro253Ser Single submitter
- p.Asp166Asn No assertion criteria BPIFA3-related disorder
Uncertain significance 35
- p.Ala140Val Single submitter ⚠
- p.Ala20Ser Single submitter ⚠
- p.Ala53Thr Single submitter ⚠
- p.Ala73Thr Single submitter ⚠
- p.Asn67Ser Single submitter ⚠
- p.Asp132His Single submitter ⚠
- p.Gln46Pro Single submitter ⚠
- p.Gln87Arg Single submitter ⚠
- p.Gly13Glu Single submitter ⚠
- p.Gly163Arg Single submitter ⚠
- p.Gly163Ser Single submitter ⚠
- p.Gly47Asp Single submitter ⚠
- p.His141Leu Single submitter ⚠
- p.His141Pro Single submitter ⚠
- p.His86Gln Single submitter ⚠
- p.Ile135Val Single submitter ⚠
- p.Ile181Val Single submitter ⚠
- p.Ile94Thr Single submitter ⚠
- p.Leu177Phe Single submitter ⚠
- p.Leu196Val Single submitter ⚠
- p.Leu223Pro Single submitter ⚠
- p.Leu9Phe Single submitter ⚠
- p.Met142Ile Single submitter ⚠
- p.Phe62Ser Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro244Ala Single submitter ⚠
- p.Pro244Ser Single submitter ⚠
- p.Ser116Leu Single submitter ⚠
- p.Ser171Asn Single submitter ⚠
- p.Ser55Ile Single submitter ⚠
- p.Ser82Asn Single submitter ⚠
- p.Ser82Thr Single submitter ⚠
- p.Thr178Pro Single submitter ⚠
- p.Val145Ile Single submitter ⚠
- p.Val146Leu Single submitter ⚠