PIK3R5 — 175 ClinVar variants
All ClinVar germline PIK3R5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →
4 Conflicting · 18 Benign · 1 Benign/Likely benign · 31 Likely benign · 121 Uncertain significance
Full PIK3R5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 118
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 agree, ClinVar conflicts 4
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- PIK3R5 p.Leu359Ser Conflicting Single submitter
- PIK3R5 p.Pro583Leu Conflicting Single submitter
-
PIK3R5 p.Pro629Ser
Conflicting
Single submitter
ataxia with oculomotor apraxia type 3
-
PIK3R5 p.Pro853Ser
Conflicting
Single submitter
ataxia with oculomotor apraxia type 3
Predictors lean, ClinVar uncertain 99
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PIK3R5 p.Arg157His
Uncertain significance
Multiple submitters
ataxia with oculomotor apraxia type 3
-
PIK3R5 p.Arg455Gln
Uncertain significance
Multiple submitters
spastic ataxia
- PIK3R5 p.Arg761Trp Uncertain significance Multiple submitters
-
PIK3R5 p.Pro403Ser
Uncertain significance
Multiple submitters
ataxia with oculomotor apraxia type 3
- PIK3R5 p.Thr195Ala Uncertain significance Multiple submitters
- PIK3R5 p.Val211Ile Uncertain significance Multiple submitters
- PIK3R5 p.Ala132Thr Uncertain significance Single submitter
- PIK3R5 p.Ala224Val Uncertain significance Single submitter
- PIK3R5 p.Ala234Thr Uncertain significance Single submitter
- PIK3R5 p.Ala353Ser Uncertain significance Single submitter
- PIK3R5 p.Ala494Val Uncertain significance Single submitter
- PIK3R5 p.Ala590Thr Uncertain significance Single submitter
- PIK3R5 p.Arg157Gly Uncertain significance Single submitter
- PIK3R5 p.Arg29Cys Uncertain significance Single submitter
- PIK3R5 p.Arg29His Uncertain significance Single submitter
- PIK3R5 p.Arg373Leu Uncertain significance Single submitter
- PIK3R5 p.Arg406Cys Uncertain significance Single submitter
- PIK3R5 p.Arg406Gly Uncertain significance Single submitter
- PIK3R5 p.Arg406His Uncertain significance Single submitter
- PIK3R5 p.Arg411Cys Uncertain significance Single submitter
- PIK3R5 p.Arg411His Uncertain significance Single submitter
- PIK3R5 p.Arg415Cys Uncertain significance Single submitter
- PIK3R5 p.Arg415His Uncertain significance Single submitter
- PIK3R5 p.Arg441Gln Uncertain significance Single submitter
- PIK3R5 p.Arg472Gln Uncertain significance Single submitter
- PIK3R5 p.Arg475Cys Uncertain significance Single submitter
- PIK3R5 p.Arg498Cys Uncertain significance Single submitter
- PIK3R5 p.Arg498Ser Uncertain significance Single submitter
- PIK3R5 p.Arg501His Uncertain significance Single submitter
- PIK3R5 p.Arg545Cys Uncertain significance Single submitter
-
PIK3R5 p.Arg545His
Uncertain significance
Single submitter
ataxia with oculomotor apraxia type 3
- PIK3R5 p.Arg550Gln Uncertain significance Single submitter
- PIK3R5 p.Arg576Gln Uncertain significance Single submitter
- PIK3R5 p.Arg761Gln Uncertain significance Single submitter
- PIK3R5 p.Arg824Lys Uncertain significance Single submitter
- PIK3R5 p.Asn543Asp Uncertain significance Single submitter
- PIK3R5 p.Asn757His Uncertain significance Single submitter
-
PIK3R5 p.Asn785Ser
Uncertain significance
Single submitter
ataxia with oculomotor apraxia type 3
- PIK3R5 p.Asp319Asn Uncertain significance Single submitter
- PIK3R5 p.Asp585Val Uncertain significance Single submitter
- PIK3R5 p.Asp721Asn Uncertain significance Single submitter
- PIK3R5 p.Asp845Asn Uncertain significance Single submitter
- PIK3R5 p.Cys123Phe Uncertain significance Single submitter
- PIK3R5 p.Cys572Ser Uncertain significance Single submitter
- PIK3R5 p.Glu310Gln Uncertain significance Single submitter
- PIK3R5 p.Glu321Asp Uncertain significance Single submitter
- PIK3R5 p.Glu329Val Uncertain significance Single submitter
- PIK3R5 p.Glu401Lys Uncertain significance Single submitter
- PIK3R5 p.Glu465Lys Uncertain significance Single submitter
- PIK3R5 p.Glu646Gly Uncertain significance Single submitter
- PIK3R5 p.Gly186Arg Uncertain significance Single submitter
- PIK3R5 p.Gly338Arg Uncertain significance Single submitter
- PIK3R5 p.Gly445Ala Uncertain significance Single submitter
- PIK3R5 p.Gly485Asp Uncertain significance Single submitter
- PIK3R5 p.Gly566Arg Uncertain significance Single submitter
- PIK3R5 p.Gly736Val Uncertain significance Single submitter
- PIK3R5 p.Gly809Ala Uncertain significance Single submitter
-
PIK3R5 p.Gly809Ser
Uncertain significance
Single submitter
ataxia with oculomotor apraxia type 3
- PIK3R5 p.His187Tyr Uncertain significance Single submitter
- PIK3R5 p.His208Arg Uncertain significance Single submitter
- PIK3R5 p.His693Tyr Uncertain significance Single submitter
- PIK3R5 p.Ile243Met Uncertain significance Single submitter
- PIK3R5 p.Ile718Met Uncertain significance Single submitter
- PIK3R5 p.Leu223Val Uncertain significance Single submitter
- PIK3R5 p.Leu361Phe Uncertain significance Single submitter
- PIK3R5 p.Leu459Phe Uncertain significance Single submitter
- PIK3R5 p.Leu479Val Uncertain significance Single submitter
- PIK3R5 p.Leu56Phe Uncertain significance Single submitter
- PIK3R5 p.Leu864Arg Uncertain significance Single submitter
- PIK3R5 p.Lys513Arg Uncertain significance Single submitter
- PIK3R5 p.Pro185Arg Uncertain significance Single submitter
- PIK3R5 p.Pro462His Uncertain significance Single submitter
- PIK3R5 p.Pro469Leu Uncertain significance Single submitter
- PIK3R5 p.Pro575Thr Uncertain significance Single submitter
- PIK3R5 p.Pro669Leu Uncertain significance Single submitter
- PIK3R5 p.Ser241Phe Uncertain significance Single submitter
- PIK3R5 p.Ser367Leu Uncertain significance Single submitter
- PIK3R5 p.Ser372Leu Uncertain significance Single submitter
- PIK3R5 p.Ser408Asn Uncertain significance Single submitter
- PIK3R5 p.Ser798Leu Uncertain significance Single submitter
- PIK3R5 p.Ser844Gly Uncertain significance Single submitter
- PIK3R5 p.Ser848Leu Uncertain significance Single submitter
- PIK3R5 p.Ser876Gly Uncertain significance Single submitter
- PIK3R5 p.Thr184Lys Uncertain significance Single submitter
- PIK3R5 p.Thr184Met Uncertain significance Single submitter
- PIK3R5 p.Thr231Met Uncertain significance Single submitter
- PIK3R5 p.Thr233Ile Uncertain significance Single submitter
- PIK3R5 p.Thr272Ala Uncertain significance Single submitter
- PIK3R5 p.Thr272Ile Uncertain significance Single submitter
- PIK3R5 p.Thr336Ala Uncertain significance Single submitter
- PIK3R5 p.Thr377Ile Uncertain significance Single submitter
- PIK3R5 p.Thr687Met Uncertain significance Single submitter
- PIK3R5 p.Thr688Ala Uncertain significance Single submitter
- PIK3R5 p.Thr774Met Uncertain significance Single submitter
- PIK3R5 p.Thr852Ala Uncertain significance Single submitter
-
PIK3R5 p.Thr852Met
Uncertain significance
Single submitter
ataxia with oculomotor apraxia type 3
- PIK3R5 p.Tyr425Cys Uncertain significance Single submitter
- PIK3R5 p.Val380Ile Uncertain significance Single submitter
- PIK3R5 p.Val559Met Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- PIK3R5 p.Arg526Trp Uncertain significance Single submitter
- PIK3R5 p.Glu174Lys Uncertain significance Single submitter
- PIK3R5 p.Glu834Gly Uncertain significance Single submitter
- PIK3R5 p.Gly36Ala Uncertain significance Single submitter
- PIK3R5 p.Gly612Ser Uncertain significance Single submitter
- PIK3R5 p.Leu24Phe Uncertain significance Single submitter
- PIK3R5 p.Leu56His Uncertain significance Single submitter
- PIK3R5 p.Leu652Pro Uncertain significance Single submitter
- PIK3R5 p.Lys782Arg Uncertain significance Single submitter
- PIK3R5 p.Lys782Glu Uncertain significance Single submitter
- PIK3R5 p.Phe175Leu Uncertain significance Single submitter
- PIK3R5 p.Phe552Cys Uncertain significance Single submitter
- PIK3R5 p.Pro116Ser Uncertain significance Single submitter
- PIK3R5 p.Pro504Ala Uncertain significance Single submitter
- PIK3R5 p.Tyr558His Uncertain significance Single submitter
All PIK3R5 variants
Conflicting classifications of pathogenicity 4
- p.Leu359Ser Single submitter ⚠
- p.Pro583Leu Single submitter ⚠
- p.Pro629Ser Single submitter ataxia with oculomotor apraxia type 3 ⚠
- p.Pro853Ser Single submitter ataxia with oculomotor apraxia type 3 ⚠
Benign 18
- c.205-21C>T Multiple submitters ataxia with oculomotor apraxia type 3
- c.2205+10G>A Multiple submitters
- c.2299+13G>A Multiple submitters ataxia with oculomotor apraxia type 3
- c.2299+18T>G Multiple submitters ataxia with oculomotor apraxia type 3
- c.2383-27T>C Multiple submitters ataxia with oculomotor apraxia type 3
- c.2496-46A>G Multiple submitters ataxia with oculomotor apraxia type 3
- c.657+41T>C Multiple submitters ataxia with oculomotor apraxia type 3
- p.Ala5= Multiple submitters
- p.Asn537Ser Multiple submitters
- p.Asp337= Multiple submitters ataxia with oculomotor apraxia type 3
- p.Asp615= Multiple submitters
- p.His279= Multiple submitters ataxia with oculomotor apraxia type 3
- p.Leu311= Multiple submitters ataxia with oculomotor apraxia type 3
- p.Leu359= Multiple submitters ataxia with oculomotor apraxia type 3
- p.Ser367= Multiple submitters ataxia with oculomotor apraxia type 3
- p.Thr597= Multiple submitters
- p.Val285= Multiple submitters
- p.Val561Met Single submitter
Benign/Likely benign 1
- p.His199= Multiple submitters
Likely benign 31
- p.Ser345= Multiple submitters
- p.Thr752= Multiple submitters
- c.1616+9C>T Single submitter
- c.2034+19G>A Single submitter
- c.2382+5G>A Single submitter
- c.-11G>A Single submitter
- p.Arg251Gln Single submitter
- p.Gly382= Single submitter
- p.Gly485Ser Single submitter
- p.His355Arg Single submitter
- p.His627= Single submitter
- p.Leu436= Single submitter
- p.Lys787= Single submitter
- p.Met387Val Single submitter
- p.Pro462= Single submitter
- p.Pro480= Single submitter
- p.Pro52= Single submitter
- p.Ser107Arg Single submitter
- p.Ser395= Single submitter
- p.Ser524= Single submitter
- p.Ser700= Single submitter
- p.Ser753= Single submitter
- p.Thr255= Single submitter
- p.Thr516= Single submitter
- p.Thr79Ala Single submitter
- p.Thr9= Single submitter
- p.Thr92= Single submitter
- p.Val260= Single submitter
- c.895+10C>T No assertion criteria PIK3R5-related disorder
- p.Arg287= No assertion criteria PIK3R5-related disorder
- p.Thr6= No assertion criteria PIK3R5-related disorder
Uncertain significance 121
- p.Arg157His Multiple submitters ataxia with oculomotor apraxia type 3 ⚠
- p.Arg455Gln Multiple submitters spastic ataxia ⚠
- p.Arg761Trp Multiple submitters ⚠
- p.Pro403Ser Multiple submitters ataxia with oculomotor apraxia type 3 ⚠
- p.Thr195Ala Multiple submitters ⚠
- p.Val211Ile Multiple submitters ⚠
- c.1905+5G>A Single submitter
- p.Ala132Thr Single submitter ⚠
- p.Ala224Val Single submitter ⚠
- p.Ala234Thr Single submitter ⚠
- p.Ala353Ser Single submitter ⚠
- p.Ala494Val Single submitter ⚠
- p.Ala590Thr Single submitter ⚠
- p.Ala737Asp Single submitter
- p.Arg157Gly Single submitter ⚠
- p.Arg29Cys Single submitter ⚠
- p.Arg29His Single submitter ⚠
- p.Arg373Leu Single submitter ⚠
- p.Arg406Cys Single submitter ⚠
- p.Arg406Gly Single submitter ⚠
- p.Arg406His Single submitter ⚠
- p.Arg411Cys Single submitter ⚠
- p.Arg411His Single submitter ⚠
- p.Arg415Cys Single submitter ⚠
- p.Arg415His Single submitter ⚠
- p.Arg438Ser Single submitter
- p.Arg441Gln Single submitter ⚠
- p.Arg472Gln Single submitter ⚠
- p.Arg475Cys Single submitter ⚠
- p.Arg498Cys Single submitter ⚠
- p.Arg498Ser Single submitter ⚠
- p.Arg501His Single submitter ⚠
- p.Arg526Trp Single submitter ⚠
- p.Arg545Cys Single submitter ⚠
- p.Arg545His Single submitter ataxia with oculomotor apraxia type 3 ⚠
- p.Arg550Gln Single submitter ⚠
- p.Arg576Gln Single submitter ⚠
- p.Arg761Gln Single submitter ⚠
- p.Arg824Lys Single submitter ⚠
- p.Asn543Asp Single submitter ⚠
- p.Asn757His Single submitter ⚠
- p.Asn785Ser Single submitter ataxia with oculomotor apraxia type 3 ⚠
- p.Asp319Asn Single submitter ⚠
- p.Asp585Val Single submitter ⚠
- p.Asp721Asn Single submitter ⚠
- p.Asp845Asn Single submitter ⚠
- p.Cys123Phe Single submitter ⚠
- p.Cys572Ser Single submitter ⚠
- p.Glu174Lys Single submitter ⚠
- p.Glu310Gln Single submitter ⚠
- p.Glu321Asp Single submitter ⚠
- p.Glu329Val Single submitter ⚠
- p.Glu401Lys Single submitter ⚠
- p.Glu465Lys Single submitter ⚠
- p.Glu646Gly Single submitter ⚠
- p.Glu834Gly Single submitter ⚠
- p.Gly186Arg Single submitter ⚠
- p.Gly338Arg Single submitter ⚠
- p.Gly36Ala Single submitter ⚠
- p.Gly445Ala Single submitter ⚠
- p.Gly485Asp Single submitter ⚠
- p.Gly566Arg Single submitter ⚠
- p.Gly612Ser Single submitter ⚠
- p.Gly736Val Single submitter ⚠
- p.Gly809Ala Single submitter ⚠
- p.Gly809Ser Single submitter ataxia with oculomotor apraxia type 3 ⚠
- p.His187Tyr Single submitter ⚠
- p.His208Arg Single submitter ⚠
- p.His693Tyr Single submitter ⚠
- p.Ile243Met Single submitter ⚠
- p.Ile718Met Single submitter ⚠
- p.Leu223Val Single submitter ⚠
- p.Leu24Phe Single submitter ⚠
- p.Leu361Phe Single submitter ⚠
- p.Leu459Phe Single submitter ⚠
- p.Leu479Val Single submitter ⚠
- p.Leu56His Single submitter ⚠
- p.Leu56Phe Single submitter ⚠
- p.Leu652Pro Single submitter ⚠
- p.Leu864Arg Single submitter ⚠
- p.Lys513Arg Single submitter ⚠
- p.Lys782Arg Single submitter ⚠
- p.Lys782Glu Single submitter ⚠
- p.Phe175Leu Single submitter ⚠
- p.Phe552Cys Single submitter ⚠
- p.Pro116Ser Single submitter ⚠
- p.Pro185Arg Single submitter ⚠
- p.Pro462His Single submitter ⚠
- p.Pro469Leu Single submitter ⚠
- p.Pro504Ala Single submitter ⚠
- p.Pro575Thr Single submitter ⚠
- p.Pro669Leu Single submitter ⚠
- p.Ser241Phe Single submitter ⚠
- p.Ser367Leu Single submitter ⚠
- p.Ser372Leu Single submitter ⚠
- p.Ser408Asn Single submitter ⚠
- p.Ser798Leu Single submitter ⚠
- p.Ser829Arg Single submitter
- p.Ser844Gly Single submitter ⚠
- p.Ser848Leu Single submitter ⚠
- p.Ser876Gly Single submitter ⚠
- p.Thr184Lys Single submitter ⚠
- p.Thr184Met Single submitter ⚠
- p.Thr231Met Single submitter ⚠
- p.Thr233Ile Single submitter ⚠
- p.Thr272Ala Single submitter ⚠
- p.Thr272Ile Single submitter ⚠
- p.Thr336Ala Single submitter ⚠
- p.Thr377Ile Single submitter ⚠
- p.Thr687Met Single submitter ⚠
- p.Thr688Ala Single submitter ⚠
- p.Thr774Met Single submitter ⚠
- p.Thr852Ala Single submitter ⚠
- p.Thr852Met Single submitter ataxia with oculomotor apraxia type 3 ⚠
- p.Tyr425Cys Single submitter ⚠
- p.Tyr558His Single submitter ⚠
- p.Val163Met Single submitter
- p.Val171Leu Single submitter
- p.Val380Ile Single submitter ⚠
- p.Val559Met Single submitter ⚠
- p.Val781del Single submitter ataxia with oculomotor apraxia type 3