BLM p.Leu737Ile
c.2209_2211delinsATT · VCV4687755
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
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 2.6 | GERP 1, phastCons 1 |
| Regional constraint | o/e 0.92 | unconstrained · MANE · 46 kb · p 0.035 · regional, not allelic |
Variant & gene context
- Gene
- BLM
- Protein
- p.Leu737Ile
- Coding
- c.2209_2211delinsATT
- MANE Select
- NM_000057
- Type
- Indel
- Location
- chr15:90766925 (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 737
- the helicase atp-binding domain; a β-strand
Similar variants
- BLM p.Leu737fs Pathogenic same residue
- BLM p.Leu737Met Conflicting classifications of pathogenicity ★ ⚠ same residue
- BLM p.Leu737= Likely benign ★ same residue
- BLM p.Asn1141fs Pathogenic/Likely pathogenic ★★ same type
- BLM p.Met1190fs Pathogenic/Likely pathogenic ★★ same type
- BLM c.799+4_799+5delinsCA Uncertain significance ★★ same type
- BLM p.Ala1136Phe Uncertain significance ★★ same type
- BLM p.Arg818Gly 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/blm-p-leu737ile (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown