TSHB p.Ala92=
c.276T>C · rs2526217086 · VCV2704915
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 0.63 | GERP -0.047, phastCons 0.4 |
| Overall | ||
| CADD | 7.27 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- TSHB
- Protein
- p.Ala92=
- Coding
- c.276T>C
- MANE Select
- NM_000549
- dbSNP
- rs2526217086
- Type
- single nucleotide variant
- Location
- chr1:115034086 (GRCh38)
- Gene constraint
- LOEUF 1.532 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 86.28 · 3 PDB
- Residue 92
- a UniProt-annotated variant site (in chng4)
Similar variants
- TSHB c.162+5G>A Pathogenic ★★ same type
- TSHB p.Gln69Ter Pathogenic/Likely pathogenic ★★ same type
- TSHB p.Gly49Arg Pathogenic/Likely pathogenic ★★ same type
- TSHB p.Ala100Thr Uncertain significance ★★ ⚠ same type
- TSHB p.Gly86Arg Uncertain significance ★★ ⚠ same type
- TSHB c.162+16C>T Benign/Likely benign ★★ same type
- TSHB c.163-4C>G Likely benign ★★ same type
- TSHB p.Ala18= Likely benign ★★ 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/tshb-p-ala92 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown