CTPS2 — 35 ClinVar variants
All ClinVar germline CTPS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Conflicting · 2 Benign · 3 Likely benign · 29 Uncertain significance
Full CTPS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CTPS2 p.Ala428Val Uncertain significance Single submitter
- CTPS2 p.Arg217Gln Uncertain significance Single submitter
- CTPS2 p.Arg481Gln Uncertain significance Single submitter
- CTPS2 p.Arg481Trp Uncertain significance Single submitter
- CTPS2 p.Glu438Lys Uncertain significance Single submitter
- CTPS2 p.Glu584Lys Uncertain significance Single submitter
- CTPS2 p.Ile262Val Uncertain significance Single submitter
- CTPS2 p.Leu400Pro Uncertain significance Single submitter
- CTPS2 p.Leu61Val Uncertain significance Single submitter
- CTPS2 p.Pro115Arg Uncertain significance Single submitter
- CTPS2 p.Pro211Leu Uncertain significance Single submitter
- CTPS2 p.Pro539Arg Uncertain significance Single submitter
- CTPS2 p.Pro578Ser Uncertain significance Single submitter
- CTPS2 p.Val201Ala Uncertain significance Single submitter
-
CTPS2 p.Val253Ile
Uncertain significance
Single submitter
laterality defects, autosomal dominant
- CTPS2 p.Val504Ile Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- CTPS2 p.Ala315Thr Conflicting Single submitter
- CTPS2 p.Ala546Thr Uncertain significance Single submitter
- CTPS2 p.Arg202Cys Uncertain significance Single submitter
- CTPS2 p.Asn99His Uncertain significance Single submitter
- CTPS2 p.Asp290Tyr Uncertain significance Single submitter
- CTPS2 p.Asp503Asn Uncertain significance Single submitter
- CTPS2 p.Glu347Lys Uncertain significance Single submitter
- CTPS2 p.Glu493Gly Uncertain significance Single submitter
- CTPS2 p.His439Arg Uncertain significance Single submitter
- CTPS2 p.Ile298Met Uncertain significance Single submitter
- CTPS2 p.Leu444Val Uncertain significance Single submitter
- CTPS2 p.Met448Leu Uncertain significance Single submitter
- CTPS2 p.Pro221His Uncertain significance Single submitter
- CTPS2 p.Thr90Met Uncertain significance Single submitter
All CTPS2 variants
Conflicting classifications of pathogenicity 1
- p.Ala315Thr Single submitter ⚠
Benign 2
- p.Gly542= Multiple submitters
- p.Lys344Asn Single submitter CYTIDINE 5-PRIME TRIPHOSPHATE SYNTHETASE 2 deficiency
Likely benign 3
- p.Asp365= Single submitter
- p.Phe492Leu Single submitter
- p.Phe59= Single submitter
Uncertain significance 29
- p.Ala428Val Single submitter ⚠
- p.Ala546Thr Single submitter ⚠
- p.Arg202Cys Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg481Gln Single submitter ⚠
- p.Arg481Trp Single submitter ⚠
- p.Asn99His Single submitter ⚠
- p.Asp290Tyr Single submitter ⚠
- p.Asp503Asn Single submitter ⚠
- p.Glu347Lys Single submitter ⚠
- p.Glu438Lys Single submitter ⚠
- p.Glu493Gly Single submitter ⚠
- p.Glu584Lys Single submitter ⚠
- p.His439Arg Single submitter ⚠
- p.Ile262Val Single submitter ⚠
- p.Ile298Met Single submitter ⚠
- p.Leu400Pro Single submitter ⚠
- p.Leu444Val Single submitter ⚠
- p.Leu61Val Single submitter ⚠
- p.Met448Leu Single submitter ⚠
- p.Pro115Arg Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro221His Single submitter ⚠
- p.Pro539Arg Single submitter ⚠
- p.Pro578Ser Single submitter ⚠
- p.Thr90Met Single submitter ⚠
- p.Val201Ala Single submitter ⚠
- p.Val253Ile Single submitter laterality defects, autosomal dominant ⚠
- p.Val504Ile Single submitter ⚠