RBM8A — 77 ClinVar variants
All ClinVar germline RBM8A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
6 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 4 Benign · 2 Benign/Likely benign · 40 Likely benign · 20 Uncertain significance
Full RBM8A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 10
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RBM8A p.Asn135His Uncertain significance Multiple submitters
-
RBM8A p.Arg152Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBM8A p.Arg152Trp
Uncertain significance
Single submitter
thrombocytopenia-absent radius syndrome
-
RBM8A p.Arg159Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBM8A p.Arg160Lys
Uncertain significance
Single submitter
thrombocytopenia-absent radius syndrome
- RBM8A p.Arg165Cys Uncertain significance Single submitter
-
RBM8A p.Asp170Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBM8A p.Gln137Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBM8A p.Ile144Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBM8A p.Phe150Leu
Uncertain significance
Single submitter
thrombocytopenia-absent radius syndrome
Predictors split 4
The independent predictors disagree with each other — read with care.
-
RBM8A p.Asn135Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- RBM8A p.Ala2Thr Uncertain significance Single submitter
-
RBM8A p.Asp147Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
RBM8A p.Gly141Glu
Uncertain significance
Single submitter
Inborn genetic diseases
All RBM8A variants
Pathogenic 6
- c.128-2A>G Single submitter
- c.67+34G>C Single submitter thrombocytopenia-absent radius syndrome
- c.-19G>A Single submitter thrombocytopenia-absent radius syndrome
- c.*6C>T Single submitter thrombocytopenia-absent radius syndrome
- c.343-2A>G No assertion criteria thrombocytopenia-absent radius syndrome
- p.Arg163Ter No assertion criteria thrombocytopenia-absent radius syndrome
Likely pathogenic 2
- c.67+5G>A Single submitter RBM8A-related disorder
- p.Gln142Ter Single submitter RBM8A-related disorder
Conflicting classifications of pathogenicity 3
- c.343-6C>G Single submitter thrombocytopenia-absent radius syndrome
- c.67+32G>C Single submitter Fetal anomalies with a likely genetic cause
- c.*6C>G Single submitter RBM8A-related disorder
Benign 4
- c.128-61C>A Multiple submitters
- c.479+15G>A Multiple submitters thrombocytopenia-absent radius syndrome
- c.67+93A>T Multiple submitters
- c.127+21dup Single submitter thrombocytopenia-absent radius syndrome
Benign/Likely benign 2
- c.128-9C>T Multiple submitters thrombocytopenia-absent radius syndrome
- c.68-6T>C Multiple submitters thrombocytopenia-absent radius syndrome
Likely benign 40
- c.128-17G>C Multiple submitters thrombocytopenia-absent radius syndrome
- c.128-7C>T Multiple submitters thrombocytopenia-absent radius syndrome
- c.343-17C>T Multiple submitters thrombocytopenia-absent radius syndrome
- c.*108C>T Multiple submitters
- p.Gly141= Multiple submitters thrombocytopenia-absent radius syndrome
- c.127+19G>A Single submitter thrombocytopenia-absent radius syndrome
- c.128-14dup Single submitter thrombocytopenia-absent radius syndrome
- c.128-20C>T Single submitter thrombocytopenia-absent radius syndrome
- c.343-13T>C Single submitter thrombocytopenia-absent radius syndrome
- c.343-19G>C Single submitter thrombocytopenia-absent radius syndrome
- c.343-4C>A Single submitter thrombocytopenia-absent radius syndrome
- c.479+12A>G Single submitter thrombocytopenia-absent radius syndrome
- c.479+17A>C Single submitter thrombocytopenia-absent radius syndrome
- c.479+18A>C Single submitter thrombocytopenia-absent radius syndrome
- c.480-11T>C Single submitter thrombocytopenia-absent radius syndrome
- c.480-12_480-10del Single submitter thrombocytopenia-absent radius syndrome
- c.480-5C>T Single submitter thrombocytopenia-absent radius syndrome
- c.480-8T>G Single submitter thrombocytopenia-absent radius syndrome
- c.67+11T>C Single submitter thrombocytopenia-absent radius syndrome
- c.67+13G>A Single submitter thrombocytopenia-absent radius syndrome
- c.67+44= Single submitter
- c.67+44A>G Single submitter
- c.67+54A>G Single submitter
- c.67+6G>C Single submitter
- c.68-15C>T Single submitter thrombocytopenia-absent radius syndrome
- c.68-17A>G Single submitter thrombocytopenia-absent radius syndrome
- c.68-18T>C Single submitter thrombocytopenia-absent radius syndrome
- c.68-4C>T Single submitter thrombocytopenia-absent radius syndrome
- c.*2586G= Single submitter
- p.Ala10= Single submitter
- p.Ala2= Single submitter thrombocytopenia-absent radius syndrome
- p.Ala32= Single submitter
- p.Arg174= Single submitter
- p.Gln59= Single submitter thrombocytopenia-absent radius syndrome
- p.Glu23= Single submitter thrombocytopenia-absent radius syndrome
- p.Gly115= Single submitter thrombocytopenia-absent radius syndrome
- p.Gly45= Single submitter thrombocytopenia-absent radius syndrome
- p.Ile89Val Single submitter thrombocytopenia-absent radius syndrome
- p.Phe15= Single submitter thrombocytopenia-absent radius syndrome
- p.Pro169= Single submitter thrombocytopenia-absent radius syndrome
Uncertain significance 20
- p.Asn135His Multiple submitters ⚠
- p.Asn135Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val146Ile Multiple submitters Inborn genetic diseases
- c.68-3C>T Single submitter thrombocytopenia-absent radius syndrome
- c.-19G>T Single submitter thrombocytopenia-absent radius syndrome
- p.Ala2Thr Single submitter ⚠
- p.Arg152Leu Single submitter Inborn genetic diseases ⚠
- p.Arg152Trp Single submitter thrombocytopenia-absent radius syndrome ⚠
- p.Arg159Lys Single submitter Inborn genetic diseases ⚠
- p.Arg160Lys Single submitter thrombocytopenia-absent radius syndrome ⚠
- p.Arg165Cys Single submitter ⚠
- p.Arg51Pro Single submitter Inborn genetic diseases
- p.Asp147Glu Single submitter Inborn genetic diseases ⚠
- p.Asp170Glu Single submitter Inborn genetic diseases ⚠
- p.Gln137Arg Single submitter Inborn genetic diseases ⚠
- p.Gly12= Single submitter
- p.Gly141Glu Single submitter Inborn genetic diseases ⚠
- p.Ile144Leu Single submitter Inborn genetic diseases ⚠
- p.Leu139Phe Single submitter Inborn genetic diseases
- p.Phe150Leu Single submitter thrombocytopenia-absent radius syndrome ⚠