STAT5B p.Leu275=
c.823C>T · VCV3367881
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.025%, mid)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · G>C here scores Δ0.79 · evaluated, not missing |
|---|---|---|
| Overall | ||
| CADD | 13.22 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.025%
Middle Eastern · 1/3,998 alleles
Filtering AF
0.00195%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00111%
Overall
0.000475%
7/1,473,600 alleles · ultra-rare
exomes 7/1,322,370 · genomes 0/151,230 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.025% | 3,998 |
| South Asian | 0.00577% | 17,317 |
| Remaining individualsnot grpmax-eligible | 0.00176% | 56,832 |
| European (non-Finnish) | 8.95e-05% | 1,116,816 |
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
- STAT5B
- Protein
- p.Leu275=
- Coding
- c.823C>T
- MANE Select
- NM_012448
- Type
- single nucleotide variant
- Location
- chr17:42219322 (GRCh38)
- Gene constraint
- LOEUF 0.277 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 85.90 · 2 PDB
- Residue 275
- the 'required for interaction with nmi' region; an α-helix
Similar variants
- STAT5B c.1906+1G>A Likely pathogenic ★★ same type
- STAT5B p.Ala20Glu Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala20Val Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala213Gly Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala213Ser Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala723Thr Uncertain significance ★★ ⚠ same type
- STAT5B p.Ala785Thr Uncertain significance ★★ ⚠ same type
- STAT5B p.Arg121Leu 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/stat5b-p-leu275 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown