RRM2 — 22 ClinVar variants
All ClinVar germline RRM2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Benign · 1 Likely benign · 20 Uncertain significance
Full RRM2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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RRM2 n.1182A>T
Uncertain significance
Single submitter
Inborn genetic diseases
- RRM2 n.1554C>A Uncertain significance Single submitter
- RRM2 p.Ala64Asp Uncertain significance Single submitter
- RRM2 p.Asp13Glu Uncertain significance Single submitter
- RRM2 p.Asp89Gly Uncertain significance Single submitter
- RRM2 p.Leu145Ser Uncertain significance Single submitter
- RRM2 p.Lys185Arg Uncertain significance Single submitter
- RRM2 p.Lys283Gln Uncertain significance Single submitter
- RRM2 p.Lys30Arg Uncertain significance Single submitter
- RRM2 p.Thr199Met Uncertain significance Single submitter
- RRM2 p.Thr60Ala Uncertain significance Single submitter
- RRM2 p.Tyr162Cys Uncertain significance Single submitter
- RRM2 p.Val289Gly Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All RRM2 variants
Benign 1
- p.Gln16= Multiple submitters
Likely benign 1
- c.-3A>G Single submitter
Uncertain significance 20
- c.-24G>T Single submitter
- c.-30C>G Single submitter
- c.-9G>A Single submitter
- n.1182A>T Single submitter Inborn genetic diseases ⚠
- n.1554C>A Single submitter ⚠
- p.Ala230Val Single submitter ⚠
- p.Ala64Asp Single submitter ⚠
- p.Asn195Asp Single submitter ⚠
- p.Asp13Glu Single submitter ⚠
- p.Asp89Gly Single submitter ⚠
- p.Ile197Val Single submitter ⚠
- p.Leu145Ser Single submitter ⚠
- p.Leu43Gln Single submitter ⚠
- p.Lys185Arg Single submitter ⚠
- p.Lys283Gln Single submitter ⚠
- p.Lys30Arg Single submitter ⚠
- p.Thr199Met Single submitter ⚠
- p.Thr60Ala Single submitter ⚠
- p.Tyr162Cys Single submitter ⚠
- p.Val289Gly Single submitter ⚠