CDKN2B — 51 ClinVar variants
All ClinVar germline CDKN2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 28 flagged for review →
4 Likely pathogenic · 2 Conflicting · 4 Benign · 13 Likely benign · 28 Uncertain significance
Full CDKN2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 28
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- CDKN2B p.Asn41Ser Conflicting Single submitter
-
CDKN2B p.Asp86Asn
Conflicting
Single submitter
multiple endocrine neoplasia
Predictors lean, ClinVar uncertain 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CDKN2B p.Ala129Val Uncertain significance Single submitter
- CDKN2B p.Ala50Val Uncertain significance Single submitter
- CDKN2B p.Ala59Val Uncertain significance Single submitter
- CDKN2B p.Arg24Gln Uncertain significance Single submitter
- CDKN2B p.Asn41Asp Uncertain significance Single submitter
-
CDKN2B p.Asn44Ser
Uncertain significance
Single submitter
acute lymphoblastic leukemia
- CDKN2B p.Asp118Ala Uncertain significance Single submitter
- CDKN2B p.Asp39Asn Uncertain significance Single submitter
- CDKN2B p.Asp94His Uncertain significance Single submitter
- CDKN2B p.Gln52Pro Uncertain significance Single submitter
- CDKN2B p.Glu16Asp Uncertain significance Single submitter
- CDKN2B p.Gly12Ser Uncertain significance Single submitter
- CDKN2B p.Met54Thr Uncertain significance Single submitter
- CDKN2B p.Ser10Ile Uncertain significance Single submitter
- CDKN2B p.Thr134Arg Uncertain significance Single submitter
- CDKN2B p.Val128Ile Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CDKN2B p.Ala129Gly Uncertain significance Single submitter
- CDKN2B p.Ala23Val Uncertain significance Single submitter
- CDKN2B p.Arg123Trp Uncertain significance Single submitter
- CDKN2B p.Asp118Asn Uncertain significance Single submitter
- CDKN2B p.Gln52Arg Uncertain significance Single submitter
- CDKN2B p.Glu63Gln Uncertain significance Single submitter
- CDKN2B p.Glu63Lys Uncertain significance Single submitter
- CDKN2B p.Leu106Pro Uncertain significance Single submitter
- CDKN2B p.Leu80Pro Uncertain significance Single submitter
- CDKN2B p.Ser58Arg Uncertain significance Single submitter
All CDKN2B variants
Likely pathogenic 4
- c.*1346dup No assertion criteria breast cancer
- c.*2763G>T No assertion criteria breast cancer
- c.*845_*846insCA No assertion criteria breast cancer
- c.*845_*846insCACA No assertion criteria breast cancer
Conflicting classifications of pathogenicity 2
- p.Asn41Ser Single submitter ⚠
- p.Asp86Asn Single submitter multiple endocrine neoplasia ⚠
Benign 4
- c.157-102G>A Multiple submitters
- c.157-27C>A Multiple submitters
- p.Ala120= Multiple submitters
- c.156+293T>A Single submitter
Likely benign 13
- p.Leu115= Multiple submitters
- c.156+10G>A Single submitter
- c.156+22C>T Single submitter
- c.156+3_156+6del Single submitter
- c.156+9G>A Single submitter
- c.-4C>T Single submitter
- c.*29C>A Single submitter
- c.*43C>G Single submitter
- p.Ala19Asp Single submitter
- p.Gly130= Single submitter
- p.Ser20= Single submitter
- p.Thr136= Single submitter
- p.Val84= Single submitter
Uncertain significance 28
- p.Ala129Gly Single submitter ⚠
- p.Ala129Val Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala59Val Single submitter ⚠
- p.Arg109_Val117del Single submitter
- p.Arg123Trp Single submitter ⚠
- p.Arg24Gln Single submitter ⚠
- p.Asn41Asp Single submitter ⚠
- p.Asn44Ser Single submitter acute lymphoblastic leukemia ⚠
- p.Asp118Ala Single submitter ⚠
- p.Asp118Asn Single submitter ⚠
- p.Asp39Asn Single submitter ⚠
- p.Asp94His Single submitter ⚠
- p.Gln52Arg Single submitter ⚠
- p.Gln52Pro Single submitter ⚠
- p.Glu16Asp Single submitter ⚠
- p.Glu63Gln Single submitter ⚠
- p.Glu63Lys Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Leu106Pro Single submitter ⚠
- p.Leu80Pro Single submitter ⚠
- p.Met54Thr Single submitter ⚠
- p.Ser10Ile Single submitter ⚠
- p.Ser58Arg Single submitter ⚠
- p.Thr134Arg Single submitter ⚠
- p.Val128Ile Single submitter ⚠
- p.Ala70fs No assertion criteria