BLM p.Val712del
c.2134_2136del · rs2505441509 · VCV2859070
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 0.89 | GERP 1.6, phastCons 1 |
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.Val712del
- Coding
- c.2134_2136del
- MANE Select
- NM_000057
- dbSNP
- rs2505441509
- Type
- Deletion
- Location
- chr15:90765355 (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 712
- the helicase atp-binding domain; a β-strand
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 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
- BLM p.Arg836fs Pathogenic ★★ same condition
- BLM p.Arg85fs Pathogenic/Likely pathogenic ★★ same condition
- BLM p.Asn448fs 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-val712del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown