BLM p.Asp436del
c.1307_1309del · VCV4716143
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Bloom syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -1.7 | GERP -5.3 |
Variant & gene context
- Gene
- BLM
- Protein
- p.Asp436del
- Coding
- c.1307_1309del
- MANE Select
- NM_000057
- Type
- Deletion
- Location
- chr15:90760678 (GRCh38)
- Gene constraint
- LOEUF 0.847 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 61.10 · 16 PDB
- Residue 436
- the 'necessary for interaction with spidr' region
Disease context
Bloom syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Bloom syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Antenatal, Neonatal
- Prevalence
- 1-9 / 100 000 (Specific population)
Similar variants
- BLM p.Asp436= Likely benign ★★ same residue
- BLM p.Asp436Glu Uncertain significance ★ ⚠ same residue
- BLM p.Asp436Val Uncertain significance ★ ⚠ same residue
- BLM c.2193+1_2193+9del Pathogenic/Likely pathogenic ★★ same condition
- BLM c.3013_3019+4del Likely pathogenic ★★ same condition
- BLM c.3210+2del Pathogenic/Likely pathogenic ★★ same condition
- BLM c.99-8_112del Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Arg545fs 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-asp436del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown