RPS6KA2 — 79 ClinVar variants

All ClinVar germline RPS6KA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

1 Benign · 1 Benign/Likely benign · 6 Likely benign · 71 Uncertain significance

Full RPS6KA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 50

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 19

The independent predictors disagree with each other — read with care.

All RPS6KA2 variants

Benign 1

p.Thr729= Single submitter

Benign/Likely benign 1

p.Asn565= Multiple submitters

Likely benign 6

p.Arg500Gln Single submitter
p.Asp83= Single submitter
p.Pro387= Single submitter
p.Val37Ile Single submitter
p.Val552Ile Single submitter
p.Glu440Lys No assertion criteria EBV-positive nodal T- and NK-cell lymphoma ⚠

Uncertain significance 71

c.2076+1G>C Single submitter
p.Ala354Val Single submitter ⚠
p.Ala369Thr Single submitter ⚠
p.Ala590Val Single submitter ⚠
p.Ala624Val Single submitter ⚠
p.Ala708Thr Single submitter ⚠
p.Arg101Trp Single submitter ⚠
p.Arg149Gln Single submitter ⚠
p.Arg215Lys Single submitter ⚠
p.Arg215Thr Single submitter ⚠
p.Arg328Gln Single submitter ⚠
p.Arg355Gln Single submitter ⚠
p.Arg490His Single submitter ⚠
p.Arg497His Single submitter ⚠
p.Arg500Trp Single submitter ⚠
p.Arg585Cys Single submitter ⚠
p.Arg625Gln Single submitter ⚠
p.Arg685Gln Single submitter ⚠
p.Arg704Lys Single submitter ⚠
p.Arg722His Single submitter ⚠
p.Arg727Ser Single submitter ⚠
p.Asp241Asn Single submitter ⚠
p.Asp438His Single submitter ⚠
p.Asp452Asn Single submitter ⚠
p.Asp617Asn Single submitter ⚠
p.Asp639Asn Single submitter ⚠
p.Asp643Asn Single submitter ⚠
p.Gln501Glu Single submitter ⚠
p.Gln659Arg Single submitter ⚠
p.Glu131Lys Single submitter ⚠
p.Glu153Gly Single submitter ⚠
p.Glu40Gly Single submitter
p.Gly204Ser Single submitter ⚠
p.Gly246Ser Single submitter ⚠
p.Gly284Ala Single submitter ⚠
p.Gly284Arg Single submitter ⚠
p.Gly424Val Single submitter ⚠
p.Gly556Asp Single submitter ⚠
p.Gly556Ser Single submitter ⚠
p.Gly627Ser Single submitter ⚠
p.Gly81Glu Single submitter ⚠
p.Gly85Glu Single submitter ⚠
p.Ile331Val Single submitter ⚠
p.Ile400Val Single submitter ⚠
p.Ile41Val Single submitter ⚠
p.Ile469Val Single submitter ⚠
p.Leu134Pro Single submitter ⚠
p.Leu270Val Single submitter ⚠
p.Leu605Met Single submitter
p.Leu728Ile Single submitter ⚠
p.Lys48Thr Single submitter ⚠
p.Lys534Met Single submitter ⚠
p.Phe481Val Single submitter ⚠
p.Phe51Leu Single submitter ⚠
p.Phe700Leu Single submitter ⚠
p.Pro258Leu Single submitter ⚠
p.Pro364Leu Single submitter ⚠
p.Pro365Ser Single submitter ⚠
p.Ser283Gly Single submitter ⚠
p.Ser454Leu Single submitter ⚠
p.Ser544Thr Single submitter ⚠
p.Thr320Ala Single submitter ⚠
p.Thr662Met Single submitter ⚠
p.Trp243Gly Single submitter ⚠
p.Tyr327His Single submitter ⚠
p.Val116Met Single submitter ⚠
p.Val38Met Single submitter ⚠
p.Val443Met Single submitter ⚠
p.Val485Ile Single submitter ⚠
p.Val649Met Single submitter ⚠
p.Val655Met Single submitter ⚠