ASAP3 — 121 ClinVar variants

All ClinVar germline ASAP3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 114 flagged for review →

1 Conflicting · 3 Benign · 7 Likely benign · 110 Uncertain significance

Full ASAP3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 114

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 agree, ClinVar conflicts 1

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

ASAP3 p.Pro879Gln Conflicting Single submitter

Predictors lean, ClinVar uncertain 54

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

Predictors split 59

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

All ASAP3 variants

Conflicting classifications of pathogenicity 1

p.Pro879Gln Single submitter ⚠

Benign 3

p.Asp314= Multiple submitters
p.Glu377Ala Multiple submitters ⚠
p.Leu147= Multiple submitters

Likely benign 7

p.Ala717Asp Single submitter
p.Ala737Thr Single submitter
p.Arg776His Single submitter
p.Leu486= Single submitter
p.Pro576Leu Single submitter ⚠
p.Pro716= Single submitter
p.Val878Met Single submitter ⚠

Uncertain significance 110

p.Ala103Thr Single submitter ⚠
p.Ala221Thr Single submitter ⚠
p.Ala244Val Single submitter ⚠
p.Ala415Val Single submitter ⚠
p.Ala566Thr Single submitter ⚠
p.Ala619Ser Single submitter ⚠
p.Ala629Thr Single submitter ⚠
p.Ala630Thr Single submitter ⚠
p.Ala679Val Single submitter ⚠
p.Ala717Thr Single submitter ⚠
p.Ala742Ser Single submitter ⚠
p.Ala742Val Single submitter ⚠
p.Ala79Val Single submitter ⚠
p.Ala860Thr Single submitter ⚠
p.Ala860Val Single submitter ⚠
p.Arg107Cys Single submitter ⚠
p.Arg165Cys Single submitter ⚠
p.Arg165His Single submitter ⚠
p.Arg167Trp Single submitter ⚠
p.Arg186Trp Single submitter ⚠
p.Arg283Gln Single submitter ⚠
p.Arg317Gln Single submitter ⚠
p.Arg354Gly Single submitter ⚠
p.Arg474Cys Single submitter ⚠
p.Arg527Cys Single submitter ⚠
p.Arg543Gln Single submitter ⚠
p.Arg710His Single submitter ⚠
p.Arg710Ser Single submitter ⚠
p.Arg762Trp Single submitter ⚠
p.Arg776Cys Single submitter ⚠
p.Arg857Trp Single submitter ⚠
p.Arg858Gln Single submitter ⚠
p.Arg861Trp Single submitter ⚠
p.Asn298His Single submitter ⚠
p.Asn557Ser Single submitter ⚠
p.Asp364Tyr Single submitter ⚠
p.Asp378Glu Single submitter ⚠
p.Asp572Asn Single submitter ⚠
p.Cys362Ser Single submitter ⚠
p.Cys637Ser Single submitter ⚠
p.Gln294Arg Single submitter ⚠
p.Gln375Glu Single submitter ⚠
p.Gln463Arg Single submitter ⚠
p.Gln571Arg Single submitter ⚠
p.Gln575His Single submitter ⚠
p.Gln678Lys Single submitter ⚠
p.Gln745Arg Single submitter ⚠
p.Glu108Lys Single submitter ⚠
p.Glu358Lys Single submitter ⚠
p.Glu824Ala Single submitter ⚠
p.Glu851Lys Single submitter ⚠
p.Gly139Ser Single submitter ⚠
p.Gly307Val Single submitter ⚠
p.Gly410Ala Single submitter ⚠
p.Gly525Ala Single submitter ⚠
p.Gly612Ser Single submitter ⚠
p.Gly68Asp Single submitter ⚠
p.Gly699Cys Single submitter ⚠
p.Gly84Arg Single submitter ⚠
p.Gly84Ser Single submitter ⚠
p.Gly885Arg Single submitter ⚠
p.His192Pro Single submitter ⚠
p.His248Arg Single submitter ⚠
p.His280Tyr Single submitter ⚠
p.His336Pro Single submitter ⚠
p.Ile292Met Single submitter ⚠
p.Ile661Val Single submitter ⚠
p.Leu120Phe Single submitter ⚠
p.Leu268Phe Single submitter ⚠
p.Leu495Phe Single submitter ⚠
p.Leu588Arg Single submitter ⚠
p.Leu713Gln Single submitter ⚠
p.Lys433Asn Single submitter ⚠
p.Lys668Glu Single submitter ⚠
p.Met193Ile Single submitter ⚠
p.Met193Val Single submitter ⚠
p.Phe218Leu Single submitter ⚠
p.Pro175Arg Single submitter ⚠
p.Pro2Leu Single submitter ⚠
p.Pro32Ser Single submitter ⚠
p.Pro516Leu Single submitter ⚠
p.Pro580Ser Single submitter ⚠
p.Pro585Ser Single submitter ⚠
p.Pro698Arg Single submitter ⚠
p.Pro716Arg Single submitter ⚠
p.Pro815Ser Single submitter ⚠
p.Pro863Arg Single submitter ⚠
p.Ser125Phe Single submitter ⚠
p.Ser19Asn Single submitter ⚠
p.Ser337Gly Single submitter ⚠
p.Ser522Arg Single submitter ⚠
p.Ser702Arg Single submitter ⚠
p.Ser761Phe Single submitter ⚠
p.Ser761Pro Single submitter ⚠
p.Ser792Thr Single submitter ⚠
p.Ser800Cys Single submitter ⚠
p.Ser829Thr Single submitter ⚠
p.Ser852Asn Single submitter ⚠
p.Thr338Met Single submitter ⚠
p.Thr347Ile Single submitter ⚠
p.Thr553Ser Single submitter ⚠
p.Thr837Ile Single submitter ⚠
p.Thr883Ile Single submitter ⚠
p.Tyr535Cys Single submitter ⚠
p.Val589Ile Single submitter ⚠
p.Val59Leu Single submitter ⚠
p.Val693Ile Single submitter ⚠
p.Val80Met Single submitter ⚠
p.Val846Ile Single submitter ⚠
p.Val846Phe Single submitter ⚠