CSF2RB p.Cys91=
c.273C>T · rs61736839 · VCV788754
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
low-frequency (popmax 1.86%, sas)
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 -4.8 | GERP -3.4 |
| Overall | ||
| CADD | 2.917 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.86%
South Asian · 1,695/91,086 alleles
Filtering AF
1.79%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.76%
Overall
0.881%
14,223/1,614,216 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 1.86% | 54 |
| Middle Eastern | 1.4% | 71 |
| Remaining individualsnot grpmax-eligible | 0.928% | 108 |
| Admixed American | 0.915% | 109 |
| European (non-Finnish) | 0.911% | 110 |
| Ashkenazi Jewishnot grpmax-eligible | 0.898% | 111 |
| Amishnot grpmax-eligible | 0.329% | 304 |
| Finnishnot grpmax-eligible | 0.273% | 366 |
| African / African-American | 0.153% | 653 |
| East Asian | 0.00668% | 14,961 |
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
- CSF2RB
- Protein
- p.Cys91=
- Coding
- c.273C>T
- MANE Select
- NM_000395
- dbSNP
- rs61736839
- Type
- single nucleotide variant
- Location
- chr22:36926059 (GRCh38)
- Gene constraint
- LOEUF 0.511 · pLI 0.93 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 65.50 · 10 PDB
- Residue 91
- a disulfide bond; a β-strand
Similar variants
- CSF2RB p.Cys91Arg Uncertain significance ★ ⚠ same residue
- CSF2RB p.Ala185Thr Uncertain significance ★★ ⚠ same type
- CSF2RB p.Ala255Thr Uncertain significance ★★ ⚠ same type
- CSF2RB p.Ala314Thr Uncertain significance ★★ ⚠ same type
- CSF2RB p.Ala314Val Uncertain significance ★★ ⚠ same type
- CSF2RB p.Ala394Thr Uncertain significance ★★ ⚠ same type
- CSF2RB p.Ala455Thr Uncertain significance ★★ ⚠ same type
- CSF2RB p.Ala576Thr 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/csf2rb-p-cys91 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown