ACVR1B — 43 ClinVar variants
All ClinVar germline ACVR1B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 32 flagged for review →
3 Pathogenic · 2 Benign · 38 Uncertain significance
Full ACVR1B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 32
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 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACVR1B p.Ala35Thr Uncertain significance Single submitter
- ACVR1B p.Ala382Thr Uncertain significance Single submitter
- ACVR1B p.Ala414Asp Uncertain significance Single submitter
- ACVR1B p.Ala483Val Uncertain significance Single submitter
-
ACVR1B p.Arg379Gln
Uncertain significance
Single submitter
exocrine pancreatic carcinoma
- ACVR1B p.Arg415Gly Uncertain significance Single submitter
- ACVR1B p.Asn455Ser Uncertain significance Single submitter
- ACVR1B p.Asp105Asn Uncertain significance Single submitter
- ACVR1B p.Gly22Ser Uncertain significance Single submitter
- ACVR1B p.Gly273Arg Uncertain significance Single submitter
- ACVR1B p.Gly481Asp Uncertain significance Single submitter
- ACVR1B p.Ile141Leu Uncertain significance Single submitter
- ACVR1B p.Leu147Phe Uncertain significance Single submitter
- ACVR1B p.Met121Leu Uncertain significance Single submitter
- ACVR1B p.Pro119Leu Uncertain significance Single submitter
- ACVR1B p.Pro12Ser Uncertain significance Single submitter
- ACVR1B p.Ser237Cys Uncertain significance Single submitter
- ACVR1B p.Ser4Leu Uncertain significance Single submitter
- ACVR1B p.Ser8Pro Uncertain significance Single submitter
- ACVR1B p.Thr188Ile Uncertain significance Single submitter
- ACVR1B p.Val108Leu Uncertain significance Single submitter
- ACVR1B p.Val108Met Uncertain significance Single submitter
- ACVR1B p.Val499Met Uncertain significance Single submitter
- ACVR1B p.Val76Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- ACVR1B p.Arg359Cys Uncertain significance Single submitter
- ACVR1B p.Asn455Ile Uncertain significance Single submitter
- ACVR1B p.Leu16Phe Uncertain significance Single submitter
- ACVR1B p.Pro12His Uncertain significance Single submitter
- ACVR1B p.Ser313Gly Uncertain significance Single submitter
- ACVR1B p.Thr178Met Uncertain significance Single submitter
- ACVR1B p.Tyr184Cys Uncertain significance Single submitter
- ACVR1B p.Val468Gly Uncertain significance Single submitter
All ACVR1B variants
Pathogenic 3
- c.1262-502_1392+24del No assertion criteria exocrine pancreatic carcinoma
- p.Asp387fs No assertion criteria exocrine pancreatic carcinoma
- p.Met304Ile No assertion criteria dextro-looped transposition of the great arteries
Benign 2
- p.Leu494= Multiple submitters
- c.91+2641A>G Single submitter
Uncertain significance 38
- c.812-1205T>G Single submitter
- c.812-1213A>C Single submitter
- c.812-1220G>A Single submitter
- c.812-1246C>A Single submitter
- c.812-1263G>T Single submitter
- c.812-1299C>T Single submitter
- p.Ala35Thr Single submitter ⚠
- p.Ala382Thr Single submitter ⚠
- p.Ala414Asp Single submitter ⚠
- p.Ala483Val Single submitter ⚠
- p.Arg359Cys Single submitter ⚠
- p.Arg379Gln Single submitter exocrine pancreatic carcinoma ⚠
- p.Arg415Gly Single submitter ⚠
- p.Asn455Ile Single submitter ⚠
- p.Asn455Ser Single submitter ⚠
- p.Asp105Asn Single submitter ⚠
- p.Gly22Ser Single submitter ⚠
- p.Gly273Arg Single submitter ⚠
- p.Gly481Asp Single submitter ⚠
- p.Ile141Leu Single submitter ⚠
- p.Leu147Phe Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Met121Leu Single submitter ⚠
- p.Pro119Leu Single submitter ⚠
- p.Pro12His Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Ser237Cys Single submitter ⚠
- p.Ser313Gly Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Ser8Pro Single submitter ⚠
- p.Thr178Met Single submitter ⚠
- p.Thr188Ile Single submitter ⚠
- p.Tyr184Cys Single submitter ⚠
- p.Val108Leu Single submitter ⚠
- p.Val108Met Single submitter ⚠
- p.Val468Gly Single submitter ⚠
- p.Val499Met Single submitter ⚠
- p.Val76Ile Single submitter ⚠