BLK p.Ala342=
c.1026G>A · VCV3605494
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0117%, amr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.23 | donor loss, 19 bp away · masked 0 · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.26 | GERP -1.7, phastCons 0.2 |
| Overall | ||
| CADD | 10.97 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0117%
Admixed American · 7/60,008 alleles
Filtering AF
0.00543%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0038%
Overall
0.00359%
58/1,613,856 alleles · ultra-rare
exomes 49/1,461,646 · genomes 9/152,210 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0117% | 8,573 |
| Finnishnot grpmax-eligible | 0.00469% | 21,340 |
| African / African-American | 0.004% | 24,976 |
| European (non-Finnish) | 0.00347% | 28,778 |
| South Asian | 0.00329% | 30,360 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,462 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- BLK
- Protein
- p.Ala342=
- Coding
- c.1026G>A
- MANE Select
- NM_001715
- Type
- single nucleotide variant
- Location
- chr8:11558035 (GRCh38)
- Gene constraint
- LOEUF 1.295 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.89
- Residue 342
- the protein kinase domain
Similar variants
- BLK p.Ala342Val Uncertain significance ★ ⚠ same residue
- BLK p.Arg131Gln Uncertain significance ★★ ⚠ same type
- BLK p.Arg180His Uncertain significance ★★ ⚠ same type
- BLK p.Arg238Trp Uncertain significance ★★ ⚠ same type
- BLK p.Arg295Trp Uncertain significance ★★ same type
- BLK p.Arg298Gln Uncertain significance ★★ ⚠ same type
- BLK p.Arg466His Uncertain significance ★★ ⚠ same type
- BLK p.Asp68Val 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/blk-p-ala342 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown