CCDC116 — 128 ClinVar variants

All ClinVar germline CCDC116 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 110 flagged for review →

1 Conflicting · 8 Benign · 18 Likely benign · 101 Uncertain significance

Full CCDC116 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 110

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 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

CCDC116 p.Pro414Leu Conflicting Single submitter

Predictors lean, ClinVar uncertain 68

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

Predictors split 41

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

All CCDC116 variants

Conflicting classifications of pathogenicity 1

p.Pro414Leu Single submitter ⚠

Benign 8

c.73-8C>T Multiple submitters
p.Arg174= Multiple submitters
p.Asn302= Multiple submitters
p.Lys412Arg Multiple submitters
p.Pro293Leu Multiple submitters
p.Thr569= Multiple submitters
p.Val252Met Multiple submitters ⚠
p.Ile276Asn Single submitter ⚠

Likely benign 18

p.Ala124Val Single submitter
p.Arg139Gln Single submitter
p.Arg268Leu Single submitter
p.Arg308Cys Single submitter ⚠
p.Arg380His Single submitter ⚠
p.Arg544His Single submitter
p.Arg586His Single submitter ⚠
p.Asp287Asn Single submitter
p.Asp331Asn Single submitter ⚠
p.Asp437Asn Single submitter ⚠
p.Gly570Ser Single submitter
p.Leu286= Single submitter
p.Leu286Phe Single submitter
p.Leu313= Single submitter
p.Lys506Glu Single submitter
p.Pro258Leu Single submitter
p.Ser224Leu Single submitter ⚠
p.Ser318Asn Single submitter

Uncertain significance 101

p.Ala12Asp Single submitter ⚠
p.Ala255Thr Single submitter ⚠
p.Ala312Asp Single submitter ⚠
p.Ala320Thr Single submitter ⚠
p.Ala354Thr Single submitter ⚠
p.Ala552Thr Single submitter ⚠
p.Arg123Trp Single submitter ⚠
p.Arg127Gln Single submitter ⚠
p.Arg137His Single submitter ⚠
p.Arg139Trp Single submitter ⚠
p.Arg199Gln Single submitter ⚠
p.Arg199Leu Single submitter ⚠
p.Arg295Cys Single submitter ⚠
p.Arg367Gly Single submitter ⚠
p.Arg367His Single submitter ⚠
p.Arg37Trp Single submitter ⚠
p.Arg430His Single submitter ⚠
p.Arg449Leu Single submitter ⚠
p.Arg44Cys Single submitter ⚠
p.Arg495Gln Single submitter ⚠
p.Arg509Pro Single submitter ⚠
p.Arg513Trp Single submitter ⚠
p.Arg544Leu Single submitter ⚠
p.Arg586Cys Single submitter ⚠
p.Arg5His Single submitter ⚠
p.Arg61Cys Single submitter ⚠
p.Asn159His Single submitter ⚠
p.Asn273Ser Single submitter ⚠
p.Asn429Ser Single submitter ⚠
p.Asp382Asn Single submitter ⚠
p.Asp456Tyr Single submitter ⚠
p.Asp587Gly Single submitter ⚠
p.Cys168Gly Single submitter ⚠
p.Cys519Tyr Single submitter ⚠
p.Cys543Tyr Single submitter ⚠
p.Gln536Pro Single submitter ⚠
p.Gln604Arg Single submitter ⚠
p.Glu116Gln Single submitter ⚠
p.Glu341Asp Single submitter ⚠
p.Glu522Asp Single submitter ⚠
p.Glu594Ala Single submitter ⚠
p.Gly167Ser Single submitter ⚠
p.Gly207Val Single submitter ⚠
p.Gly332Ser Single submitter ⚠
p.Gly360Arg Single submitter ⚠
p.Gly43Arg Single submitter ⚠
p.His172Tyr Single submitter ⚠
p.Ile468Ser Single submitter ⚠
p.Leu191His Single submitter ⚠
p.Leu225Pro Single submitter ⚠
p.Leu288Pro Single submitter ⚠
p.Leu349Val Single submitter ⚠
p.Leu446Phe Single submitter ⚠
p.Lys29Asn Single submitter ⚠
p.Lys374Arg Single submitter ⚠
p.Lys577Glu Single submitter ⚠
p.Lys588Arg Single submitter ⚠
p.Lys588Asn Single submitter ⚠
p.Met389Lys Single submitter ⚠
p.Met424Thr Single submitter ⚠
p.Met424Val Single submitter ⚠
p.Phe336Ser Single submitter ⚠
p.Phe464Val Single submitter ⚠
p.Phe466Cys Single submitter ⚠
p.Pro114Thr Single submitter ⚠
p.Pro311Arg Single submitter ⚠
p.Pro347Leu Single submitter ⚠
p.Pro362Ser Single submitter ⚠
p.Pro366Ser Single submitter ⚠
p.Pro524Thr Single submitter ⚠
p.Ser249Arg Single submitter ⚠
p.Ser256Leu Single submitter ⚠
p.Ser281Thr Single submitter ⚠
p.Ser407Thr Single submitter ⚠
p.Ser420Leu Single submitter ⚠
p.Ser491Leu Single submitter ⚠
p.Ser520Asn Single submitter ⚠
p.Ser545Cys Single submitter ⚠
p.Ser54Arg Single submitter ⚠
p.Ser80Asn Single submitter ⚠
p.Ser80Ile Single submitter ⚠
p.Thr102Lys Single submitter ⚠
p.Thr102Met Single submitter ⚠
p.Thr141Ile Single submitter ⚠
p.Thr300Met Single submitter ⚠
p.Thr343Ala Single submitter ⚠
p.Thr516Ala Single submitter ⚠
p.Thr516Asn Single submitter ⚠
p.Thr540Ala Single submitter ⚠
p.Thr540Ile Single submitter ⚠
p.Thr569Ile Single submitter ⚠
p.Thr78Ile Single submitter ⚠
p.Trp241Cys Single submitter ⚠
p.Tyr363Cys Single submitter ⚠
p.Val106Leu Single submitter ⚠
p.Val109Leu Single submitter ⚠
p.Val115Leu Single submitter ⚠
p.Val117Glu Single submitter ⚠
p.Val133Ile Single submitter ⚠
p.Val25Leu Single submitter ⚠
p.Val321Met Single submitter ⚠