CSTF2 — 44 ClinVar variants
All ClinVar germline CSTF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
1 Pathogenic · 1 Conflicting · 2 Benign · 4 Likely benign · 36 Uncertain significance
Full CSTF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSTF2 p.Ala108Val Uncertain significance Single submitter
- CSTF2 p.Ala242Val Uncertain significance Single submitter
- CSTF2 p.Ala263Thr Uncertain significance Single submitter
- CSTF2 p.Ala427Val Uncertain significance Single submitter
- CSTF2 p.Arg294Gln Uncertain significance Single submitter
- CSTF2 p.Arg330Gln Uncertain significance Single submitter
- CSTF2 p.Gln227His Uncertain significance Single submitter
- CSTF2 p.Gln232His Uncertain significance Single submitter
- CSTF2 p.Gln527Lys Uncertain significance Single submitter
- CSTF2 p.Gly253Val Uncertain significance Single submitter
- CSTF2 p.Gly497Val Uncertain significance Single submitter
- CSTF2 p.Gly522Ser Uncertain significance Single submitter
- CSTF2 p.His358Tyr Uncertain significance Single submitter
- CSTF2 p.Met221Val Uncertain significance Single submitter
- CSTF2 p.Met250Val Uncertain significance Single submitter
- CSTF2 p.Met306Val Uncertain significance Single submitter
- CSTF2 p.Met465Val Uncertain significance Single submitter
- CSTF2 p.Met504Leu Uncertain significance Single submitter
- CSTF2 p.Met554Leu Uncertain significance Single submitter
- CSTF2 p.Pro205Leu Uncertain significance Single submitter
- CSTF2 p.Pro257Ser Uncertain significance Single submitter
- CSTF2 p.Pro368Ser Uncertain significance Single submitter
- CSTF2 p.Pro407Ser Uncertain significance Single submitter
- CSTF2 p.Ser287Asn Uncertain significance Single submitter
- CSTF2 p.Thr199Ala Uncertain significance Single submitter
- CSTF2 p.Thr199Met Uncertain significance Single submitter
- CSTF2 p.Thr28Ala Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CSTF2 p.Arg433Cys Uncertain significance Single submitter
- CSTF2 p.Arg433His Uncertain significance Single submitter
- CSTF2 p.Arg438Cys Uncertain significance Single submitter
-
CSTF2 p.Gly506Glu
Likely benign
Single submitter
intellectual developmental disorder, X-linked 113
- CSTF2 p.Gly526Arg Conflicting Single submitter
- CSTF2 p.Met384Lys Uncertain significance Single submitter
- CSTF2 p.Met455Val Uncertain significance Single submitter
- CSTF2 p.Pro302Leu Uncertain significance Single submitter
All CSTF2 variants
Pathogenic 1
- p.Asp50Ala No assertion criteria intellectual developmental disorder, X-linked 113
Conflicting classifications of pathogenicity 1
- p.Gly526Arg Single submitter ⚠
Benign 2
- p.Pro380= Multiple submitters
- c.445-10A>G Single submitter
Likely benign 4
- p.432ARAME[4] Single submitter
- p.Ala492Val Single submitter
- p.Gly506Glu Single submitter intellectual developmental disorder, X-linked 113 ⚠
- p.Tyr49= Single submitter
Uncertain significance 36
- c.1031+3A>C Single submitter
- p.Ala108Val Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala263Thr Single submitter ⚠
- p.Ala427Val Single submitter ⚠
- p.Arg294Gln Single submitter ⚠
- p.Arg330Gln Single submitter ⚠
- p.Arg433Cys Single submitter ⚠
- p.Arg433His Single submitter ⚠
- p.Arg438Cys Single submitter ⚠
- p.Arg443His Single submitter
- p.Gln227His Single submitter ⚠
- p.Gln232His Single submitter ⚠
- p.Gln527Lys Single submitter ⚠
- p.Gly253Val Single submitter ⚠
- p.Gly497Val Single submitter ⚠
- p.Gly522Ser Single submitter ⚠
- p.His358Tyr Single submitter ⚠
- p.Met221Val Single submitter ⚠
- p.Met250Val Single submitter ⚠
- p.Met306Val Single submitter ⚠
- p.Met384Lys Single submitter ⚠
- p.Met455Val Single submitter ⚠
- p.Met465Val Single submitter ⚠
- p.Met504Leu Single submitter ⚠
- p.Met554Leu Single submitter ⚠
- p.Pro205Leu Single submitter ⚠
- p.Pro257Ser Single submitter ⚠
- p.Pro302Leu Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro407Ser Single submitter ⚠
- p.Pro9Ser Single submitter
- p.Ser287Asn Single submitter ⚠
- p.Thr199Ala Single submitter ⚠
- p.Thr199Met Single submitter ⚠
- p.Thr28Ala Single submitter ⚠