BCAS1 — 82 ClinVar variants

All ClinVar germline BCAS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 71 flagged for review →

6 Benign · 1 Benign/Likely benign · 8 Likely benign · 67 Uncertain significance

Full BCAS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 71

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 51

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

Predictors split 20

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

All BCAS1 variants

Benign 6

c.1486-10G>A Multiple submitters
p.Ala180= Multiple submitters
p.Ser519= Multiple submitters
p.Thr171Met Multiple submitters ⚠
p.Thr56Met Multiple submitters ⚠
p.Thr578= Multiple submitters

Benign/Likely benign 1

p.Thr67Met Multiple submitters ⚠

Likely benign 8

p.Ala167Thr Single submitter
p.Asn464Ser Single submitter
p.Asn76Ser Single submitter
p.Glu65Lys Single submitter
p.Gly246Ser Single submitter
p.Leu611Ser Single submitter
p.Thr361Ala Single submitter
p.Thr578Met Single submitter ⚠

Uncertain significance 67

p.Ala184Val Single submitter ⚠
p.Ala257Ser Single submitter ⚠
p.Ala403Thr Single submitter ⚠
p.Ala436Val Single submitter ⚠
p.Ala490Val Single submitter ⚠
p.Ala60Gly Single submitter ⚠
p.Ala613Thr Single submitter ⚠
p.Arg101Trp Single submitter ⚠
p.Arg106His Single submitter ⚠
p.Arg106Leu Single submitter ⚠
p.Arg485Ser Single submitter ⚠
p.Arg609Trp Single submitter ⚠
p.Asn284Ser Single submitter ⚠
p.Asp133His Single submitter ⚠
p.Asp274Asn Single submitter ⚠
p.Asp585His Single submitter ⚠
p.Cys442Gly Single submitter ⚠
p.Gln376Arg Single submitter ⚠
p.Gln582His Single submitter ⚠
p.Gln614Arg Single submitter ⚠
p.Glu266Ala Single submitter ⚠
p.Glu409Lys Single submitter ⚠
p.Glu465Lys Single submitter ⚠
p.Glu530Gln Single submitter ⚠
p.Gly117Glu Single submitter ⚠
p.Gly181Arg Single submitter ⚠
p.Gly203Arg Single submitter ⚠
p.Gly32Arg Single submitter ⚠
p.Gly382Ser Single submitter ⚠
p.Gly435Arg Single submitter ⚠
p.Gly599Glu Single submitter ⚠
p.Gly600Asp Single submitter ⚠
p.Gly626Ser Single submitter ⚠
p.Ile287Val Single submitter ⚠
p.Ile52Val Single submitter ⚠
p.Leu45Ser Single submitter ⚠
p.Leu463Ile Single submitter ⚠
p.Leu97Ser Single submitter ⚠
p.Lys120Asn Single submitter ⚠
p.Lys216Arg Single submitter ⚠
p.Lys272Glu Single submitter ⚠
p.Lys367Gln Single submitter ⚠
p.Lys408Gln Single submitter ⚠
p.Lys558Asn Single submitter ⚠
p.Lys565Glu Single submitter ⚠
p.Met554Lys Single submitter ⚠
p.Met98Leu Single submitter ⚠
p.Phe291Leu Single submitter ⚠
p.Pro141Leu Single submitter ⚠
p.Pro175Ser Single submitter ⚠
p.Pro306Ala Single submitter ⚠
p.Pro34Thr Single submitter ⚠
p.Pro413Ser Single submitter ⚠
p.Pro528Leu Single submitter ⚠
p.Ser135Cys Single submitter ⚠
p.Ser260Pro Single submitter ⚠
p.Ser289Gly Single submitter ⚠
p.Ser426Pro Single submitter ⚠
p.Ser53Asn Single submitter ⚠
p.Ser544Phe Single submitter ⚠
p.Ser580Pro Single submitter ⚠
p.Thr107Ala Single submitter ⚠
p.Thr302Arg Single submitter ⚠
p.Thr504Asn Single submitter ⚠
p.Val207Met Single submitter ⚠
p.Val35Gly Single submitter ⚠
p.Val36Leu Single submitter ⚠