BLM p.Phe90del
c.264CTT[1] · rs1555418301 · VCV552104
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
2
hereditary neoplastic 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 0.59 | GERP -2.6, phastCons 0.069 |
Population frequency
dbSNP / gnomAD
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
- BLM
- Protein
- p.Phe90del
- Coding
- c.264CTT[1]
- MANE Select
- NM_000057
- dbSNP
- rs1555418301
- Type
- Microsatellite
- Location
- chr15:90749532 (GRCh38)
- Gene constraint
- LOEUF 0.847 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 61.10 · 16 PDB
Similar variants
- BLM p.Phe90= Likely benign ★ same residue
- BLM p.Arg191fs Pathogenic ★★ same condition
- BLM p.Asn202fs Pathogenic ★★ same condition
- BLM p.Asn782fs Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Cys361_Asp362delinsTer Pathogenic ★★ same condition
- BLM p.Gln100fs Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Gln802fs Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Leu1246fs 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-phe90del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown