CEACAM7 p.Ser205=
c.615C>T · VCV3999953
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00958%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.21 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -4.1 | GERP -1.7 |
| Overall | ||
| CADD | 2.298 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00958%
European (non-Finnish) · 113/1,180,024 alleles
Filtering AF
0.00809%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0076%
Overall
0.00737%
119/1,614,174 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00958% | 10,443 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,836 |
| African / African-American | 0.00267% | 37,517 |
| East Asian | 0.00223% | 44,888 |
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
- CEACAM7
- Protein
- p.Ser205=
- Coding
- c.615C>T
- MANE Select
- NM_001291485
- Type
- single nucleotide variant
- Location
- chr19:41683876 (GRCh38)
- Gene constraint
- LOEUF 1.373 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 84.92 · 1 PDB
- Residue 205
- a disulfide bond; the ig-like c2-type domain
Similar variants
- CEACAM7 p.Ala251Thr Uncertain significance ★ ⚠ same type
- CEACAM7 p.Ala46Ser Uncertain significance ★ ⚠ same type
- CEACAM7 p.Ala46Thr Uncertain significance ★ ⚠ same type
- CEACAM7 p.Ala6Thr Uncertain significance ★ ⚠ same type
- CEACAM7 p.Arg226Cys Uncertain significance ★ ⚠ same type
- CEACAM7 p.Arg235His Uncertain significance ★ ⚠ same type
- CEACAM7 p.Arg99Gln Uncertain significance ★ ⚠ same type
- CEACAM7 p.Asn156Ser 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/ceacam7-p-ser205 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown