CEACAM5 — 114 ClinVar variants
All ClinVar germline CEACAM5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 95 flagged for review →
1 Conflicting · 16 Benign · 7 Likely benign · 90 Uncertain significance
Full CEACAM5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 95
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEACAM5 p.Ala527Thr Uncertain significance Single submitter
- CEACAM5 p.Ala566Val Uncertain significance Single submitter
- CEACAM5 p.Arg225His Uncertain significance Single submitter
- CEACAM5 p.Arg628His Uncertain significance Single submitter
- CEACAM5 p.Asn551Ser Uncertain significance Single submitter
- CEACAM5 p.Asn57Asp Uncertain significance Single submitter
- CEACAM5 p.Asn76Thr Uncertain significance Single submitter
- CEACAM5 p.Asp116Gly Uncertain significance Single submitter
- CEACAM5 p.Asp374Glu Uncertain significance Single submitter
- CEACAM5 p.Asp417Asn Uncertain significance Single submitter
- CEACAM5 p.Gln446Arg Uncertain significance Single submitter
- CEACAM5 p.Glu132Asp Uncertain significance Single submitter
- CEACAM5 p.Gly538Asp Uncertain significance Single submitter
- CEACAM5 p.Ile13Met Uncertain significance Single submitter
- CEACAM5 p.Ile149Val Uncertain significance Single submitter
- CEACAM5 p.Leu409Arg Uncertain significance Single submitter
- CEACAM5 p.Lys35Arg Uncertain significance Single submitter
- CEACAM5 p.Pro244Ser Uncertain significance Single submitter
- CEACAM5 p.Pro30Leu Uncertain significance Single submitter
- CEACAM5 p.Pro600Ser Uncertain significance Single submitter
- CEACAM5 p.Pro601Ala Uncertain significance Single submitter
- CEACAM5 p.Pro601Leu Uncertain significance Single submitter
- CEACAM5 p.Ser382Asn Uncertain significance Single submitter
- CEACAM5 p.Ser603Ala Uncertain significance Single submitter
- CEACAM5 p.Thr314Met Uncertain significance Single submitter
- CEACAM5 p.Thr419Ile Uncertain significance Single submitter
- CEACAM5 p.Thr41Met Uncertain significance Single submitter
- CEACAM5 p.Trp356Ser Uncertain significance Single submitter
Predictors split 67
The independent predictors disagree with each other — read with care.
- CEACAM5 p.Ala301Val Benign Multiple submitters
- CEACAM5 p.Val335Met Benign Multiple submitters
- CEACAM5 p.Val83Ala Benign Multiple submitters
- CEACAM5 p.Ala223Asp Uncertain significance Single submitter
- CEACAM5 p.Ala261Thr Uncertain significance Single submitter
- CEACAM5 p.Ala342Thr Uncertain significance Single submitter
- CEACAM5 p.Ala687Gly Uncertain significance Single submitter
- CEACAM5 p.Arg225Ser Uncertain significance Single submitter
- CEACAM5 p.Arg628Cys Uncertain significance Single submitter
- CEACAM5 p.Asn181Lys Uncertain significance Single submitter
- CEACAM5 p.Asn373Asp Uncertain significance Single submitter
- CEACAM5 p.Asn44Thr Uncertain significance Single submitter
- CEACAM5 p.Asn612Asp Uncertain significance Single submitter
- CEACAM5 p.Asp517Val Uncertain significance Single submitter
- CEACAM5 p.Gln192His Uncertain significance Single submitter
- CEACAM5 p.Gln282Arg Uncertain significance Single submitter
- CEACAM5 p.Gln370Leu Uncertain significance Single submitter
- CEACAM5 p.Gln88Pro Uncertain significance Single submitter
- CEACAM5 p.Glu336Lys Uncertain significance Single submitter
- CEACAM5 p.Glu99Gly Uncertain significance Single submitter
- CEACAM5 p.Gly453Arg Uncertain significance Single submitter
- CEACAM5 p.Gly473Arg Uncertain significance Single submitter
- CEACAM5 p.Gly538Cys Uncertain significance Single submitter
- CEACAM5 p.Gly694Arg Uncertain significance Single submitter
- CEACAM5 p.Ile316Val Uncertain significance Single submitter
- CEACAM5 p.Ile451Met Uncertain significance Single submitter
- CEACAM5 p.Ile467Met Uncertain significance Single submitter
- CEACAM5 p.Ile598Thr Uncertain significance Single submitter
- CEACAM5 p.Ile80Thr Uncertain significance Single submitter
- CEACAM5 p.Leu200Val Uncertain significance Single submitter
- CEACAM5 p.Leu284Phe Uncertain significance Single submitter
- CEACAM5 p.Leu363Arg Uncertain significance Single submitter
- CEACAM5 p.Leu36Phe Uncertain significance Single submitter
- CEACAM5 p.Phe463Leu Uncertain significance Single submitter
- CEACAM5 p.Pro142Leu Uncertain significance Single submitter
- CEACAM5 p.Pro186Gln Conflicting Single submitter
- CEACAM5 p.Pro186Leu Uncertain significance Single submitter
- CEACAM5 p.Pro237Leu Uncertain significance Single submitter
- CEACAM5 p.Pro265Gln Uncertain significance Single submitter
- CEACAM5 p.Pro325Ser Uncertain significance Single submitter
- CEACAM5 p.Pro364Leu Uncertain significance Single submitter
- CEACAM5 p.Pro422Leu Uncertain significance Single submitter
- CEACAM5 p.Pro444Ser Uncertain significance Single submitter
- CEACAM5 p.Pro601Gln Uncertain significance Single submitter
- CEACAM5 p.Pro91Ser Uncertain significance Single submitter
- CEACAM5 p.Ser154Ala Uncertain significance Single submitter
- CEACAM5 p.Ser194Phe Uncertain significance Single submitter
- CEACAM5 p.Ser270Pro Uncertain significance Single submitter
- CEACAM5 p.Ser304Leu Uncertain significance Single submitter
- CEACAM5 p.Ser400Ile Uncertain significance Single submitter
- CEACAM5 p.Ser421Phe Uncertain significance Single submitter
- CEACAM5 p.Ser484Gly Benign Single submitter
- CEACAM5 p.Ser607Leu Uncertain significance Single submitter
- CEACAM5 p.Ser96Gly Uncertain significance Single submitter
- CEACAM5 p.Thr26Asn Uncertain significance Single submitter
- CEACAM5 p.Thr290Pro Uncertain significance Single submitter
- CEACAM5 p.Thr315Met Uncertain significance Single submitter
- CEACAM5 p.Thr379Ile Uncertain significance Single submitter
- CEACAM5 p.Thr646Met Uncertain significance Single submitter
- CEACAM5 p.Thr673Ile Uncertain significance Single submitter
- CEACAM5 p.Tyr213His Uncertain significance Single submitter
- CEACAM5 p.Tyr653Cys Uncertain significance Single submitter
- CEACAM5 p.Val157Met Uncertain significance Single submitter
- CEACAM5 p.Val313Gly Uncertain significance Single submitter
- CEACAM5 p.Val496Leu Uncertain significance Single submitter
- CEACAM5 p.Val513Leu Uncertain significance Single submitter
- CEACAM5 p.Val513Met Uncertain significance Single submitter
All CEACAM5 variants
Conflicting classifications of pathogenicity 1
- p.Pro186Gln Single submitter ⚠
Benign 16
- p.Ala301Val Multiple submitters ⚠
- p.Asp173= Multiple submitters
- p.Asp588Asn Multiple submitters
- p.Gly70= Multiple submitters
- p.Ile100Thr Multiple submitters
- p.Ile112Val Multiple submitters
- p.Ile113Thr Multiple submitters
- p.Ile80Val Multiple submitters
- p.Leu53= Multiple submitters
- p.Pro103Ser Multiple submitters
- p.Pro593= Multiple submitters
- p.Pro623= Multiple submitters
- p.Val335Met Multiple submitters ⚠
- p.Val51= Multiple submitters
- p.Val83Ala Multiple submitters ⚠
- p.Ser484Gly Single submitter ⚠
Likely benign 7
- p.Ala566Thr Single submitter
- p.Arg581His Single submitter
- p.Asp173Asn Single submitter
- p.Gly631= Single submitter
- p.Ile408Thr Single submitter
- p.Lys511Asn Single submitter
- p.Phe165Leu Single submitter
Uncertain significance 90
- p.Ala223Asp Single submitter ⚠
- p.Ala261Thr Single submitter ⚠
- p.Ala342Thr Single submitter ⚠
- p.Ala527Thr Single submitter ⚠
- p.Ala566Val Single submitter ⚠
- p.Ala687Gly Single submitter ⚠
- p.Arg225His Single submitter ⚠
- p.Arg225Ser Single submitter ⚠
- p.Arg628Cys Single submitter ⚠
- p.Arg628His Single submitter ⚠
- p.Asn181Lys Single submitter ⚠
- p.Asn373Asp Single submitter ⚠
- p.Asn44Thr Single submitter ⚠
- p.Asn551Ser Single submitter ⚠
- p.Asn57Asp Single submitter ⚠
- p.Asn612Asp Single submitter ⚠
- p.Asn76Thr Single submitter ⚠
- p.Asp116Gly Single submitter ⚠
- p.Asp374Glu Single submitter ⚠
- p.Asp417Asn Single submitter ⚠
- p.Asp517Val Single submitter ⚠
- p.Gln192His Single submitter ⚠
- p.Gln282Arg Single submitter ⚠
- p.Gln370Leu Single submitter ⚠
- p.Gln446Arg Single submitter ⚠
- p.Gln88Pro Single submitter ⚠
- p.Glu132Asp Single submitter ⚠
- p.Glu336Lys Single submitter ⚠
- p.Glu99Gly Single submitter ⚠
- p.Gly453Arg Single submitter ⚠
- p.Gly473Arg Single submitter ⚠
- p.Gly538Asp Single submitter ⚠
- p.Gly538Cys Single submitter ⚠
- p.Gly694Arg Single submitter ⚠
- p.Ile13Met Single submitter ⚠
- p.Ile149Val Single submitter ⚠
- p.Ile316Val Single submitter ⚠
- p.Ile451Met Single submitter ⚠
- p.Ile467Met Single submitter ⚠
- p.Ile598Thr Single submitter ⚠
- p.Ile80Thr Single submitter ⚠
- p.Leu200Val Single submitter ⚠
- p.Leu284Phe Single submitter ⚠
- p.Leu363Arg Single submitter ⚠
- p.Leu36Phe Single submitter ⚠
- p.Leu409Arg Single submitter ⚠
- p.Lys35Arg Single submitter ⚠
- p.Phe463Leu Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro186Leu Single submitter ⚠
- p.Pro237Leu Single submitter ⚠
- p.Pro244Ser Single submitter ⚠
- p.Pro265Gln Single submitter ⚠
- p.Pro30Leu Single submitter ⚠
- p.Pro325Ser Single submitter ⚠
- p.Pro364Leu Single submitter ⚠
- p.Pro422Leu Single submitter ⚠
- p.Pro444Ser Single submitter ⚠
- p.Pro600Ser Single submitter ⚠
- p.Pro601Ala Single submitter ⚠
- p.Pro601Gln Single submitter ⚠
- p.Pro601Leu Single submitter ⚠
- p.Pro91Ser Single submitter ⚠
- p.Ser154Ala Single submitter ⚠
- p.Ser194Phe Single submitter ⚠
- p.Ser270Pro Single submitter ⚠
- p.Ser304Leu Single submitter ⚠
- p.Ser382Asn Single submitter ⚠
- p.Ser400Ile Single submitter ⚠
- p.Ser421Phe Single submitter ⚠
- p.Ser603Ala Single submitter ⚠
- p.Ser607Leu Single submitter ⚠
- p.Ser96Gly Single submitter ⚠
- p.Thr26Asn Single submitter ⚠
- p.Thr290Pro Single submitter ⚠
- p.Thr314Met Single submitter ⚠
- p.Thr315Met Single submitter ⚠
- p.Thr379Ile Single submitter ⚠
- p.Thr419Ile Single submitter ⚠
- p.Thr41Met Single submitter ⚠
- p.Thr646Met Single submitter ⚠
- p.Thr673Ile Single submitter ⚠
- p.Trp356Ser Single submitter ⚠
- p.Tyr213His Single submitter ⚠
- p.Tyr653Cys Single submitter ⚠
- p.Val157Met Single submitter ⚠
- p.Val313Gly Single submitter ⚠
- p.Val496Leu Single submitter ⚠
- p.Val513Leu Single submitter ⚠
- p.Val513Met Single submitter ⚠