BCHE p.Val600=
c.1800G>C · rs2473337963 · VCV2654264
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00017%, nfe)
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 -0.42 | GERP -5.5 |
| Overall | ||
| CADD | 1.224 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00017%
European (non-Finnish) · 2/1,177,456 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000137%
2/1,458,368 alleles · very rare
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
- BCHE
- Protein
- p.Val600=
- Coding
- c.1800G>C
- MANE Select
- NM_000055
- dbSNP
- rs2473337963
- Type
- single nucleotide variant
- Location
- chr3:165773391 (GRCh38)
- Gene constraint
- LOEUF 1.195 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 93.30 · 111 PDB
Similar variants
- BCHE p.Arg414Cys Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Arg452Ter Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Asp98Gly Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Glu377Ter Pathogenic/Likely pathogenic ★★ same type
- BCHE p.Gly143Asp Pathogenic ★★ same type
- BCHE p.Gly393Arg Pathogenic ★★ same type
- BCHE p.Leu358Ile Pathogenic/Likely pathogenic ★★ ⚠ same type
- BCHE p.Tyr528Ter Pathogenic/Likely pathogenic ★★ 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/bche-p-val600 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown