BLVRB p.Thr84=
c.252G>C · rs142505402 · VCV784395
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.55%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.64 | GERP -3.4, phastCons 0.99 |
| Overall | ||
| CADD | 5.529 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.55%
African / African-American · 1,828/71,604 alleles
Filtering AF
2.46%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.42%
Overall
0.146%
2,226/1,520,548 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.55% | 39 |
| Admixed American | 0.227% | 441 |
| Remaining individualsnot grpmax-eligible | 0.217% | 461 |
| Middle Eastern | 0.126% | 795 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0731% | 1,368 |
| European (non-Finnish) | 0.01% | 10,002 |
| South Asian | 0.00893% | 11,199 |
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
- BLVRB
- Protein
- p.Thr84=
- Coding
- c.252G>C
- MANE Select
- NM_000713
- dbSNP
- rs142505402
- Type
- single nucleotide variant
- Location
- chr19:40458237 (GRCh38)
- Gene constraint
- LOEUF 1.718 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 97.71 · 23 PDB
Similar variants
- BLVRB p.Arg140Gly Likely benign ★★ same type
- BLVRB p.Arg46Gln Likely benign ★★ same type
- BLVRB p.Ala162Val Uncertain significance ★ ⚠ same type
- BLVRB p.Ala21Thr Uncertain significance ★ ⚠ same type
- BLVRB p.Ala26Thr Uncertain significance ★ ⚠ same type
- BLVRB p.Ala7Val Uncertain significance ★ ⚠ same type
- BLVRB p.Ala91Thr Uncertain significance ★ ⚠ same type
- BLVRB p.Arg134Gln 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/blvrb-p-thr84 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown