CIAO2B p.Asp118=
c.354C>T · rs374480753 · VCV2646606
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0329%, mid)
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 -0.82 | GERP -3.7 |
| Overall | ||
| CADD | 4.911 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0329%
Middle Eastern · 2/6,084 alleles
Filtering AF
0.0058%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00241%
Overall
0.000993%
16/1,611,770 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0329% | 3,042 |
| African / African-American | 0.00401% | 24,931 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,408 |
| European (non-Finnish) | 0.000848% | 117,905 |
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
- CIAO2B
- Protein
- p.Asp118=
- Coding
- c.354C>T
- MANE Select
- NM_016062
- dbSNP
- rs374480753
- Type
- single nucleotide variant
- Location
- chr16:66932820 (GRCh38)
- Gene constraint
- LOEUF 1.681 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.56
Similar variants
- CIAO2B p.Arg114His Uncertain significance ★ ⚠ same type
- CIAO2B p.Arg162His Uncertain significance ★ ⚠ same type
- CIAO2B p.Asn16Asp Uncertain significance ★ ⚠ same type
- CIAO2B p.Asn16Lys Uncertain significance ★ ⚠ same type
- CIAO2B p.Asp77Asn Uncertain significance ★ ⚠ same type
- CIAO2B p.Glu129Gln Uncertain significance ★ ⚠ same type
- CIAO2B p.Glu33Gly Uncertain significance ★ ⚠ same type
- CIAO2B p.Glu64Lys 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/ciao2b-p-asp118 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown