BLNK p.Trp142Ter
c.426G>A · VCV3347419
Likely pathogenic
No assertion criteria
Classification
Likely pathogenic
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
BLNK-related disorder
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 in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 17 |
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.4, phastCons 1 |
| Overall | ||
| CADD | 39.0 | 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
- BLNK
- Protein
- p.Trp142Ter
- Coding
- c.426G>A
- MANE Select
- NM_013314
- Type
- single nucleotide variant
- Location
- chr10:96223925 (GRCh38)
- Gene constraint
- LOEUF 0.517 · pLI 0.90 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 64.46 · 1 PDB
- Residue 142
- the 'disordered' region
Disease context
BLNK-related disorder
Similar variants
- BLNK p.Glu89fs Likely pathogenic ★ same condition
- BLNK c.902+2T>C Likely pathogenic ★★ same type
- BLNK p.Ala176Val Uncertain significance ★★ ⚠ same type
- BLNK p.Ala218Thr Uncertain significance ★★ ⚠ same type
- BLNK p.Ala290Val Uncertain significance ★★ ⚠ same type
- BLNK p.Ala88Ser Uncertain significance ★★ ⚠ same type
- BLNK p.Ala92Asp Uncertain significance ★★ ⚠ same type
- BLNK p.Ala92Thr 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/blnk-p-trp142ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown