BEND2 — 92 ClinVar variants

All ClinVar germline BEND2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →

5 Benign · 17 Likely benign · 70 Uncertain significance

Full BEND2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 72

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 47

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

Predictors split 25

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

All BEND2 variants

Benign 5

p.Gln198His Multiple submitters
p.Gly580Val Multiple submitters
p.Ser183Ile Multiple submitters ⚠
p.Val261Gly Multiple submitters
p.Glu784= Single submitter

Likely benign 17

p.Thr367= Multiple submitters
p.Ala182Thr Single submitter
p.Ala222Thr Single submitter
p.Arg264Gln Single submitter
p.Arg632Gly Single submitter
p.Arg671Gln Single submitter ⚠
p.Asn245= Single submitter
p.Gln773Arg Single submitter
p.Glu196Lys Single submitter
p.Gly757Ser Single submitter
p.Ile13Val Single submitter
p.Pro322= Single submitter
p.Pro54Ser Single submitter
p.Thr377Met Single submitter ⚠
p.Thr682Ala Single submitter
p.Tyr161Cys Single submitter
p.Val361Met Single submitter

Uncertain significance 70

p.Ala185Gly Single submitter ⚠
p.Ala193Thr Single submitter ⚠
p.Ala222Ser Single submitter ⚠
p.Ala270Ser Single submitter ⚠
p.Ala270Val Single submitter ⚠
p.Ala280Ser Single submitter ⚠
p.Ala423Val Single submitter ⚠
p.Ala794Thr Single submitter ⚠
p.Arg511Cys Single submitter ⚠
p.Arg588Cys Single submitter ⚠
p.Arg588His Single submitter ⚠
p.Arg629Thr Single submitter ⚠
p.Arg632Lys Single submitter ⚠
p.Arg632Trp Single submitter ⚠
p.Arg665Ser Single submitter ⚠
p.Asn137Ile Single submitter ⚠
p.Asn284Thr Single submitter ⚠
p.Asn443His Single submitter ⚠
p.Asn449Ile Single submitter ⚠
p.Asn633fs Single submitter
p.Asp417His Single submitter ⚠
p.Asp45Tyr Single submitter ⚠
p.Asp481Glu Single submitter ⚠
p.Asp69His Single submitter ⚠
p.Cys717Arg Single submitter ⚠
p.Gln61Glu Single submitter ⚠
p.Glu204Lys Single submitter ⚠
p.Glu517Asp Single submitter ⚠
p.Glu517Lys Single submitter ⚠
p.Glu786Lys Single submitter ⚠
p.Glu7Gly Single submitter ⚠
p.Gly231Ser Single submitter ⚠
p.Gly477Val Single submitter ⚠
p.His195Tyr Single submitter ⚠
p.His71Arg Single submitter ⚠
p.Ile12Phe Single submitter ⚠
p.Ile248Met Single submitter ⚠
p.Ile472Asn Single submitter ⚠
p.Leu262Pro Single submitter ⚠
p.Leu324Ser Single submitter ⚠
p.Leu387Pro Single submitter ⚠
p.Leu432Ile Single submitter ⚠
p.Leu456Phe Single submitter ⚠
p.Leu479Phe Single submitter ⚠
p.Leu528Phe Single submitter ⚠
p.Leu546Val Single submitter ⚠
p.Met28Leu Single submitter ⚠
p.Met628Leu Single submitter ⚠
p.Met77Ile Single submitter ⚠
p.Met77Lys Single submitter ⚠
p.Pro536Leu Single submitter ⚠
p.Pro666Ser Single submitter ⚠
p.Pro673Leu Single submitter ⚠
p.Pro721Ser Single submitter ⚠
p.Ser188Tyr Single submitter ⚠
p.Ser238Asn Single submitter ⚠
p.Ser531Cys Single submitter ⚠
p.Ser567Thr Single submitter ⚠
p.Ser601Tyr Single submitter ⚠
p.Ser661Asn Single submitter ⚠
p.Ser741Leu Single submitter ⚠
p.Thr244Ile Single submitter ⚠
p.Thr583Ala Single submitter ⚠
p.Thr795Ile Single submitter ⚠
p.Tyr401Cys Single submitter ⚠
p.Tyr406Cys Single submitter ⚠
p.Tyr692His Single submitter ⚠
p.Val126Ala Single submitter ⚠
p.Val448Ile Single submitter ⚠
p.Val778Ala Single submitter ⚠