HBB p.His93fs
c.275dup · rs1847552816 · VCV869310
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | escapes | premature termination codon within the last 50 nt of the penultimate exon (2 of 3, 39 nt from its 3' end) — the truncated protein is likely expressed. PVS1 input, not an applied code |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 0.099 | GERP 1.9, phastCons 0.93 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- HBB
- Protein
- p.His93fs
- Coding
- c.275dup
- MANE Select
- NM_000518
- dbSNP
- rs1847552816
- Type
- Duplication
- Location
- chr11:5226616 (GRCh38)
- Gene constraint
- LOEUF 1.964 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.09 · 350 PDB
- Residue 93
- a UniProt-annotated variant site (in j-altgelds gardens; unstable); a UniProt-annotated variant site (in isehara; unstable); a UniProt-annotated variant site (in newcastle and duino; associated in cis with s-104 in duino; unstable); a UniProt-annotated variant site (in istambul; unstable); a functional site ((microbial infection) cleavage; by n.americanus apr-2); an α-helix; the globin domain; a binding site
Similar variants
- HBB p.Ala11fs Pathogenic ★★ same condition
- HBB p.Asn109fs Pathogenic ★★ same condition
- HBB p.Asp22fs Likely pathogenic ★★ same condition
- HBB p.Asp48fs Pathogenic ★★ same condition
- HBB p.Glu44Ter Pathogenic ★★ same condition
- HBB p.Leu29fs Pathogenic ★★ same condition
- HBB p.Leu97fs Pathogenic ★★ same condition
- HBB p.Ser73fs Pathogenic/Likely pathogenic ★★ 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/hbb-p-his93fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown