BLM p.Trp567Ter
c.1700G>A · rs2505428176 · VCV1778349
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
hereditary neoplastic syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 22 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 2.7, phastCons 1 |
| Overall | ||
| CADD | 38.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- BLM
- Protein
- p.Trp567Ter
- Coding
- c.1700G>A
- MANE Select
- NM_000057
- dbSNP
- rs2505428176
- Type
- single nucleotide variant
- Location
- chr15:90761073 (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 567
- the 'necessary for interaction with spidr' region
Similar variants
- BLM p.Trp567Arg Uncertain significance ★ ⚠ same residue
- BLM c.2075-1G>A Likely pathogenic ★★ same condition
- BLM c.2193+1G>A Pathogenic/Likely pathogenic ★★ same condition
- BLM c.2308-2A>G Pathogenic/Likely pathogenic ★★ same condition
- BLM c.2407-2A>G Likely pathogenic ★★ same condition
- BLM c.2555+1G>A Likely pathogenic ★★ same condition
- BLM c.2556-2A>G Likely pathogenic ★★ same condition
- BLM c.2662+2T>C 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-trp567ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown