CBLB p.Ser894=
c.2682A>G · rs114781701 · VCV3038686
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.11%, afr)
Conditions
1
CBLB-related disorder
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 -1.6 | GERP -4 |
| Overall | ||
| CADD | 1.616 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.11%
African / African-American · 1,580/74,978 alleles
Filtering AF
2.02%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.99%
Overall
0.117%
1,883/1,613,230 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.11% | 47 |
| Admixed American | 0.122% | 822 |
| Remaining individualsnot grpmax-eligible | 0.104% | 961 |
| Middle Eastern | 0.0826% | 1,211 |
| European (non-Finnish) | 0.0133% | 7,512 |
| South Asian | 0.00329% | 30,355 |
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
- CBLB
- Protein
- p.Ser894=
- Coding
- c.2682A>G
- MANE Select
- NM_170662
- dbSNP
- rs114781701
- Type
- single nucleotide variant
- Location
- chr3:105670240 (GRCh38)
- Gene constraint
- LOEUF 0.406 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 62.88 · 36 PDB
- Residue 894
- the 'disordered' region; the 'interaction with sh3kbp1' region; a UniProt-annotated variant site (in admio3; likely pathogenic)
Disease context
CBLB-related disorder
Similar variants
- CBLB p.Ala621= Benign same condition
- CBLB p.Arg570= Likely benign same condition
- CBLB p.Asn466Asp Benign same condition
- CBLB p.Asn883Asp Benign same condition
- CBLB p.Asp351= Benign same condition
- CBLB p.Asp424= Benign same condition
- CBLB p.Leu447= Benign same condition
- CBLB p.Lys275= Benign same condition
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/cblb-p-ser894 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown