BLM p.Thr80fs
c.238dup · VCV4926630
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
BLM-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 3 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.7 | GERP -5.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- BLM
- Protein
- p.Thr80fs
- Coding
- c.238dup
- MANE Select
- NM_000057
- Type
- Duplication
- Location
- chr15:90749505 (GRCh38)
- Gene constraint
- LOEUF 0.847 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 61.10 · 16 PDB
Disease context
BLM-related disorder
Similar variants
- BLM p.Leu107fs Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Thr830fs Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Thr80Ala Uncertain significance ★★ ⚠ same residue
- BLM p.Thr80Ile Uncertain significance ★★ ⚠ same residue
- BLM p.Thr80= Likely benign ★★ same residue
- BLM c.98+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Arg959Ter Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Asp1010fs 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/blm-p-thr80fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown