CEP112 — 108 ClinVar variants
All ClinVar germline CEP112 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 97 flagged for review →
2 Pathogenic · 2 Likely pathogenic · 1 Benign · 9 Likely benign · 94 Uncertain significance
Full CEP112 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 97
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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CEP112 p.Arg702Cys
Pathogenic
No assertion criteria
spermatogenic failure 44
Predictors lean, ClinVar uncertain 53
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CEP112 p.Lys139Arg
Uncertain significance
Multiple submitters
spermatogenic failure 44
- CEP112 p.Lys569Asn Uncertain significance Multiple submitters
- CEP112 p.Ala338Val Uncertain significance Single submitter
- CEP112 p.Ala401Val Uncertain significance Single submitter
- CEP112 p.Arg253Cys Uncertain significance Single submitter
- CEP112 p.Arg37Trp Uncertain significance Single submitter
- CEP112 p.Arg431Ser Uncertain significance Single submitter
- CEP112 p.Arg459His Uncertain significance Single submitter
- CEP112 p.Arg587His Uncertain significance Single submitter
- CEP112 p.Arg608Gln Uncertain significance Single submitter
- CEP112 p.Arg639His Uncertain significance Single submitter
- CEP112 p.Arg688Gln Uncertain significance Single submitter
- CEP112 p.Arg718Gln Uncertain significance Single submitter
- CEP112 p.Arg883Leu Uncertain significance Single submitter
- CEP112 p.Asn613Ser Uncertain significance Single submitter
- CEP112 p.Asp245Glu Uncertain significance Single submitter
- CEP112 p.Asp372Gly Uncertain significance Single submitter
- CEP112 p.Asp467Asn Uncertain significance Single submitter
- CEP112 p.Asp561Val Uncertain significance Single submitter
- CEP112 p.Gln346Arg Uncertain significance Single submitter
- CEP112 p.Gln376Lys Uncertain significance Single submitter
- CEP112 p.Gln713Arg Uncertain significance Single submitter
- CEP112 p.Gln851Arg Uncertain significance Single submitter
- CEP112 p.Gln866His Uncertain significance Single submitter
- CEP112 p.Glu189Lys Uncertain significance Single submitter
- CEP112 p.Glu379Lys Uncertain significance Single submitter
- CEP112 p.Glu474Gln Uncertain significance Single submitter
- CEP112 p.Glu508Asp Uncertain significance Single submitter
- CEP112 p.Gly143Glu Uncertain significance Single submitter
- CEP112 p.Gly59Arg Uncertain significance Single submitter
- CEP112 p.Gly90Arg Uncertain significance Single submitter
- CEP112 p.His247Pro Uncertain significance Single submitter
- CEP112 p.His554Tyr Uncertain significance Single submitter
- CEP112 p.His891Gln Uncertain significance Single submitter
- CEP112 p.Ile252Lys Uncertain significance Single submitter
- CEP112 p.Ile903Val Uncertain significance Single submitter
- CEP112 p.Ile94Val Uncertain significance Single submitter
- CEP112 p.Leu148Ser Uncertain significance Single submitter
- CEP112 p.Lys193Glu Uncertain significance Single submitter
- CEP112 p.Lys239Arg Uncertain significance Single submitter
- CEP112 p.Lys912Glu Uncertain significance Single submitter
- CEP112 p.Pro152Leu Uncertain significance Single submitter
- CEP112 p.Pro185Ala Uncertain significance Single submitter
- CEP112 p.Pro82Leu Uncertain significance Single submitter
- CEP112 p.Ser151Leu Uncertain significance Single submitter
- CEP112 p.Ser504Thr Uncertain significance Single submitter
- CEP112 p.Ser777Leu Uncertain significance Single submitter
- CEP112 p.Thr147Ala Uncertain significance Single submitter
- CEP112 p.Thr162Ala Uncertain significance Single submitter
- CEP112 p.Val22Ile Uncertain significance Single submitter
- CEP112 p.Val28Phe Uncertain significance Single submitter
- CEP112 p.Val363Ile Uncertain significance Single submitter
- CEP112 p.Val740Leu Uncertain significance Single submitter
Predictors split 43
The independent predictors disagree with each other — read with care.
- CEP112 p.Ala364Gly Likely benign Single submitter
- CEP112 p.Ala401Gly Uncertain significance Single submitter
- CEP112 p.Ala486Val Uncertain significance Single submitter
- CEP112 p.Ala602Thr Uncertain significance Single submitter
- CEP112 p.Ala78Glu Uncertain significance Single submitter
- CEP112 p.Arg324Cys Uncertain significance Single submitter
- CEP112 p.Arg391His Uncertain significance Single submitter
- CEP112 p.Arg416His Uncertain significance Single submitter
- CEP112 p.Arg587Cys Likely benign Single submitter
-
CEP112 p.Arg692Trp
Uncertain significance
Single submitter
spermatogenic failure 44
- CEP112 p.Asp725Asn Uncertain significance Single submitter
- CEP112 p.Cys449Tyr Uncertain significance Single submitter
- CEP112 p.Gln320His Uncertain significance Single submitter
- CEP112 p.Gln430Arg Uncertain significance Single submitter
- CEP112 p.Gln597Pro Uncertain significance Single submitter
- CEP112 p.Gln905Leu Uncertain significance Single submitter
- CEP112 p.Glu454Lys Uncertain significance Single submitter
- CEP112 p.Glu576Gly Uncertain significance Single submitter
- CEP112 p.Glu797Lys Uncertain significance Single submitter
- CEP112 p.Glu874Lys Uncertain significance Single submitter
- CEP112 p.Glu886Gln Uncertain significance Single submitter
- CEP112 p.Glu893Gln Uncertain significance Single submitter
- CEP112 p.Glu895Ala Uncertain significance Single submitter
- CEP112 p.Ile294Met Uncertain significance Single submitter
- CEP112 p.Ile329Thr Uncertain significance Single submitter
- CEP112 p.Ile337Val Uncertain significance Single submitter
- CEP112 p.Leu42Phe Uncertain significance Single submitter
- CEP112 p.Leu42Val Uncertain significance Single submitter
- CEP112 p.Leu733Val Uncertain significance Single submitter
- CEP112 p.Leu860Met Uncertain significance Single submitter
- CEP112 p.Leu889Ile Uncertain significance Single submitter
- CEP112 p.Leu919Pro Uncertain significance Single submitter
- CEP112 p.Lys528Arg Uncertain significance Single submitter
- CEP112 p.Lys616Asn Uncertain significance Single submitter
- CEP112 p.Met24Val Uncertain significance Single submitter
- CEP112 p.Met726Val Uncertain significance Single submitter
- CEP112 p.Met99Val Uncertain significance Single submitter
- CEP112 p.Thr673Met Uncertain significance Single submitter
- CEP112 p.Tyr484Cys Uncertain significance Single submitter
- CEP112 p.Tyr907Cys Uncertain significance Single submitter
- CEP112 p.Val722Phe Uncertain significance Single submitter
- CEP112 p.Val740Met Uncertain significance Single submitter
- CEP112 p.Val934Ala Uncertain significance Single submitter
All CEP112 variants
Pathogenic 2
- p.Arg166Ter No assertion criteria spermatogenic failure 44
- p.Arg702Cys No assertion criteria spermatogenic failure 44 ⚠
Likely pathogenic 2
- c.955+1G>A Single submitter spermatogenic failure 44
- p.Gln418Ter Single submitter spermatogenic failure 44
Benign 1
- p.Leu937= Multiple submitters
Likely benign 9
- c.2164-3A>T Single submitter
- p.Ala364Gly Single submitter ⚠
- p.Ala78Val Single submitter
- p.Arg587Cys Single submitter ⚠
- p.Lys802= Single submitter
- p.Thr482= Single submitter
- p.Val470Ile Single submitter
- c.2394+25500C>T No assertion criteria
- p.Val662Ala No assertion criteria CEP112-related disorder
Uncertain significance 94
- p.Lys139Arg Multiple submitters spermatogenic failure 44 ⚠
- p.Lys569Asn Multiple submitters ⚠
- p.Ala338Val Single submitter ⚠
- p.Ala401Gly Single submitter ⚠
- p.Ala401Val Single submitter ⚠
- p.Ala486Val Single submitter ⚠
- p.Ala602Thr Single submitter ⚠
- p.Ala78Glu Single submitter ⚠
- p.Arg253Cys Single submitter ⚠
- p.Arg324Cys Single submitter ⚠
- p.Arg37Trp Single submitter ⚠
- p.Arg391His Single submitter ⚠
- p.Arg416His Single submitter ⚠
- p.Arg431Ser Single submitter ⚠
- p.Arg459His Single submitter ⚠
- p.Arg587His Single submitter ⚠
- p.Arg608Gln Single submitter ⚠
- p.Arg639His Single submitter ⚠
- p.Arg688Gln Single submitter ⚠
- p.Arg692Trp Single submitter spermatogenic failure 44 ⚠
- p.Arg718Gln Single submitter ⚠
- p.Arg883Leu Single submitter ⚠
- p.Asn613Ser Single submitter ⚠
- p.Asp245Glu Single submitter ⚠
- p.Asp372Gly Single submitter ⚠
- p.Asp467Asn Single submitter ⚠
- p.Asp561Val Single submitter ⚠
- p.Asp725Asn Single submitter ⚠
- p.Cys449Tyr Single submitter ⚠
- p.Gln320His Single submitter ⚠
- p.Gln346Arg Single submitter ⚠
- p.Gln376Lys Single submitter ⚠
- p.Gln430Arg Single submitter ⚠
- p.Gln597Pro Single submitter ⚠
- p.Gln713Arg Single submitter ⚠
- p.Gln851Arg Single submitter ⚠
- p.Gln866His Single submitter ⚠
- p.Gln905Leu Single submitter ⚠
- p.Glu189Lys Single submitter ⚠
- p.Glu379Lys Single submitter ⚠
- p.Glu454Lys Single submitter ⚠
- p.Glu474Gln Single submitter ⚠
- p.Glu508Asp Single submitter ⚠
- p.Glu576Gly Single submitter ⚠
- p.Glu797Lys Single submitter ⚠
- p.Glu874Lys Single submitter ⚠
- p.Glu886Gln Single submitter ⚠
- p.Glu893Gln Single submitter ⚠
- p.Glu895Ala Single submitter ⚠
- p.Gly143Glu Single submitter ⚠
- p.Gly59Arg Single submitter ⚠
- p.Gly90Arg Single submitter ⚠
- p.His247Pro Single submitter ⚠
- p.His554Tyr Single submitter ⚠
- p.His891Gln Single submitter ⚠
- p.Ile252Lys Single submitter ⚠
- p.Ile294Met Single submitter ⚠
- p.Ile329Thr Single submitter ⚠
- p.Ile337Val Single submitter ⚠
- p.Ile903Val Single submitter ⚠
- p.Ile94Val Single submitter ⚠
- p.Leu148Ser Single submitter ⚠
- p.Leu42Phe Single submitter ⚠
- p.Leu42Val Single submitter ⚠
- p.Leu733Val Single submitter ⚠
- p.Leu860Met Single submitter ⚠
- p.Leu889Ile Single submitter ⚠
- p.Leu919Pro Single submitter ⚠
- p.Lys193Glu Single submitter ⚠
- p.Lys239Arg Single submitter ⚠
- p.Lys528Arg Single submitter ⚠
- p.Lys616Asn Single submitter ⚠
- p.Lys912Glu Single submitter ⚠
- p.Met24Val Single submitter ⚠
- p.Met726Val Single submitter ⚠
- p.Met99Val Single submitter ⚠
- p.Pro152Leu Single submitter ⚠
- p.Pro185Ala Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser151Leu Single submitter ⚠
- p.Ser504Thr Single submitter ⚠
- p.Ser777Leu Single submitter ⚠
- p.Thr147Ala Single submitter ⚠
- p.Thr162Ala Single submitter ⚠
- p.Thr673Met Single submitter ⚠
- p.Tyr484Cys Single submitter ⚠
- p.Tyr907Cys Single submitter ⚠
- p.Val22Ile Single submitter ⚠
- p.Val28Phe Single submitter ⚠
- p.Val363Ile Single submitter ⚠
- p.Val722Phe Single submitter ⚠
- p.Val740Leu Single submitter ⚠
- p.Val740Met Single submitter ⚠
- p.Val934Ala Single submitter ⚠