CEACAM16 p.Ser32=
c.96C>T · rs191552868 · VCV226512
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 6 submitters
gnomAD v4.1
Rare
rare (popmax 0.916%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -5.7 | GERP -4.2 |
| Overall | ||
| CADD | 2.655 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.916%
Admixed American · 550/60,012 alleles
Filtering AF
0.853%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.828%
Overall
0.162%
2,611/1,613,780 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.916% | 109 |
| Remaining individualsnot grpmax-eligible | 0.182% | 548 |
| European (non-Finnish) | 0.157% | 636 |
| Finnishnot grpmax-eligible | 0.0925% | 1,082 |
| African / African-American | 0.032% | 3,127 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0236% | 4,229 |
| Middle Eastern | 0.0165% | 6,052 |
| East Asian | 0.00223% | 44,890 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- CEACAM16
- Protein
- p.Ser32=
- Coding
- c.96C>T
- MANE Select
- NM_001039213
- dbSNP
- rs191552868
- Type
- single nucleotide variant
- Location
- chr19:44703407 (GRCh38)
- Gene constraint
- LOEUF 1.139 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 90.50
Similar variants
- CEACAM16 p.Ser32Ile Benign/Likely benign ★★ same residue
- CEACAM16 c.1267+1G>A Uncertain significance ★★ same type
- CEACAM16 p.Ala198Thr Uncertain significance ★★ ⚠ same type
- CEACAM16 p.Ala355Thr Uncertain significance ★★ ⚠ same type
- CEACAM16 p.Ala372Thr Uncertain significance ★★ ⚠ same type
- CEACAM16 p.Ala375Val Uncertain significance ★★ ⚠ same type
- CEACAM16 p.Ala50Thr Uncertain significance ★★ ⚠ same type
- CEACAM16 p.Arg145Cys Uncertain significance ★★ ⚠ same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/ceacam16-p-ser32 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown