TP53BP1 — 162 ClinVar variants

All ClinVar germline TP53BP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

6 Benign · 2 Benign/Likely benign · 19 Likely benign · 135 Uncertain significance

Full TP53BP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 120

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

Predictors split 8

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

All TP53BP1 variants

Benign 6

p.Thr553Ala Multiple submitters
p.Val1444= Multiple submitters
p.Arg329= Single submitter
p.Gln704Arg Single submitter
p.Pro1436= Single submitter
p.Ser789= Single submitter

Benign/Likely benign 2

p.Ala750= Multiple submitters
p.Ser299Pro Multiple submitters

Likely benign 19

p.Cys1830= Multiple submitters
p.Thr615Met Multiple submitters
c.2702-4T>C Single submitter
c.*2199A>C Single submitter
c.*2199A>G Single submitter
p.Arg1319Cys Single submitter
p.Asn504= Single submitter
p.Ile1044Val Single submitter
p.Ile441Val Single submitter
p.Met290Thr Single submitter
p.Met47Val Single submitter
p.Met712Ile Single submitter
p.Ser585Asn Single submitter
p.Ser836Pro Single submitter
p.Thr1399Met Single submitter
p.Thr362Met Single submitter
p.Trp792Ter Single submitter Developmental disorder
p.Arg1753Cys No assertion criteria TP53BP1-related disorder
p.Thr1899Ser No assertion criteria TP53BP1-related disorder

Uncertain significance 135

p.Gln1009Arg Multiple submitters ⚠
c.*3580G>C Single submitter
p.Ala1032Val Single submitter ⚠
p.Ala1124Thr Single submitter ⚠
p.Ala1352Thr Single submitter ⚠
p.Ala1789Gly Single submitter ⚠
p.Ala1918Gly Single submitter ⚠
p.Ala374Gly Single submitter ⚠
p.Ala606Thr Single submitter ⚠
p.Ala642Thr Single submitter ⚠
p.Arg1089Ser Single submitter ⚠
p.Arg1360Gln Single submitter ⚠
p.Arg1513Gln Single submitter ⚠
p.Arg1567Ser Single submitter ⚠
p.Arg1961Lys Single submitter ⚠
p.Arg211Ser Single submitter ⚠
p.Arg376Ter Single submitter
p.Arg50Ter Single submitter
p.Asn1843Thr Single submitter ⚠
p.Asn228Ser Single submitter ⚠
p.Asn258His Single submitter ⚠
p.Asn316Lys Single submitter ⚠
p.Asn477Ser Single submitter ⚠
p.Asp1218Asn Single submitter ⚠
p.Asp1973Asn Single submitter ⚠
p.Asp230Ala Single submitter ⚠
p.Asp398Gly Single submitter ⚠
p.Asp552Glu Single submitter ⚠
p.Asp552Gly Single submitter ⚠
p.Asp595Glu Single submitter ⚠
p.Asp601Gly Single submitter ⚠
p.Asp970Gly Single submitter ⚠
p.Cys1938Tyr Single submitter ⚠
p.Cys707Ser Single submitter ⚠
p.Cys777Arg Single submitter ⚠
p.Cys802Arg Single submitter ⚠
p.Cys901Phe Single submitter ⚠
p.Gln1374His Single submitter ⚠
p.Gln314Arg Single submitter ⚠
p.Gln35His Single submitter ⚠
p.Gln415Arg Single submitter ⚠
p.Gln853Lys Single submitter ⚠
p.Glu1019Gln Single submitter ⚠
p.Glu1050Lys Single submitter ⚠
p.Glu139Lys Single submitter ⚠
p.Glu1722Val Single submitter ⚠
p.Glu1782Gln Single submitter ⚠
p.Glu554Asp Single submitter ⚠
p.Glu613Gly Single submitter ⚠
p.Glu781Lys Single submitter ⚠
p.Glu902Asp Single submitter ⚠
p.Gly1267Arg Single submitter ⚠
p.Gly1340fs Single submitter
p.Gly1700Val Single submitter ⚠
p.Gly629Arg Single submitter ⚠
p.Gly84Glu Single submitter ⚠
p.His1239Asn Single submitter ⚠
p.His223Gln Single submitter ⚠
p.His44Tyr Single submitter ⚠
p.His463Pro Single submitter ⚠
p.His895Arg Single submitter ⚠
p.Ile1430Val Single submitter ⚠
p.Ile381Met Single submitter ⚠
p.Ile602Val Single submitter ⚠
p.Ile728Asn Single submitter ⚠
p.Ile728Val Single submitter ⚠
p.Leu1148Ser Single submitter ⚠
p.Leu1222Phe Single submitter ⚠
p.Leu1254Arg Single submitter ⚠
p.Leu1317Phe Single submitter ⚠
p.Leu48Pro Single submitter ⚠
p.Leu605Ile Single submitter ⚠
p.Leu647Ser Single submitter ⚠
p.Lys1079Glu Single submitter ⚠
p.Lys1584Asn Single submitter ⚠
p.Lys1755Ile Single submitter
p.Lys222Arg Single submitter ⚠
p.Lys272Arg Single submitter ⚠
p.Lys590Arg Single submitter ⚠
p.Lys710Asn Single submitter ⚠
p.Lys939Glu Single submitter ⚠
p.Met1112Val Single submitter ⚠
p.Met1232Val Single submitter ⚠
p.Met1666Val Single submitter ⚠
p.Met397Val Single submitter ⚠
p.Met653Ile Single submitter ⚠
p.Met689Thr Single submitter ⚠
p.Met965Ile Single submitter ⚠
p.Pro1059Leu Single submitter ⚠
p.Pro1169Ala Single submitter ⚠
p.Pro1211Ser Single submitter ⚠
p.Pro1235Arg Single submitter ⚠
p.Pro1363Gln Single submitter ⚠
p.Pro1424Ala Single submitter ⚠
p.Pro1449Ser Single submitter ⚠
p.Pro1707Ser Single submitter ⚠
p.Pro261Arg Single submitter ⚠
p.Pro327Thr Single submitter ⚠
p.Pro372Ser Single submitter ⚠
p.Pro426His Single submitter ⚠
p.Pro456Ala Single submitter ⚠
p.Pro506Ser Single submitter ⚠
p.Pro576Leu Single submitter ⚠
p.Pro70Ser Single submitter ⚠
p.Ser1033Gly Single submitter ⚠
p.Ser1055Ile Single submitter ⚠
p.Ser1073fs Single submitter
p.Ser110Asn Single submitter ⚠
p.Ser1293Phe Single submitter ⚠
p.Ser1300Phe Single submitter
p.Ser1485Pro Single submitter ⚠
p.Ser1706Cys Single submitter ⚠
p.Ser1764Ile Single submitter ⚠
p.Ser207Tyr Single submitter ⚠
p.Ser227Phe Single submitter ⚠
p.Ser227Tyr Single submitter ⚠
p.Ser248Asn Single submitter ⚠
p.Ser285Phe Single submitter ⚠
p.Ser476Pro Single submitter ⚠
p.Ser517Pro Single submitter ⚠
p.Ser603Cys Single submitter ⚠
p.Ser691Gly Single submitter ⚠
p.Ser776Phe Single submitter ⚠
p.Ser789Thr Single submitter ⚠
p.Ser835Pro Single submitter ⚠
p.Thr1087Pro Single submitter ⚠
p.Thr1349Ile Single submitter ⚠
p.Thr1419Ile Single submitter ⚠
p.Thr432Pro Single submitter ⚠
p.Thr954Asn Single submitter ⚠
p.Trp792Arg Single submitter ⚠
p.Val1445Met Single submitter ⚠
p.Val1834Ile Single submitter ⚠
p.Val1921Ile Single submitter ⚠
p.Val843Gly Single submitter ⚠