BCS1L p.Pro231=
c.693C>T · rs2469885386 · VCV2064926
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 6.2e-05%)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.633 | indeterminate |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
| Constraint at this position | ||
| Conservation | phyloP -0.2 | GERP -1.8, phastCons 0.24 |
| Overall | ||
| CADD | 7.607 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.2e-05%
Overall
6.2e-05%
1/1,614,024 alleles · very rare
exomes 1/1,461,762 · genomes 0/152,262 · joint denominator
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
- BCS1L
- Protein
- p.Pro231=
- Coding
- c.693C>T
- MANE Select
- NM_001079866
- dbSNP
- rs2469885386
- Type
- single nucleotide variant
- Location
- chr2:218662234 (GRCh38)
- Gene constraint
- LOEUF 0.958 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.10
- Residue 231
- a binding site
Similar variants
- BCS1L p.Pro231Thr Uncertain significance ★ ⚠ same residue
- BCS1L c.320+1G>T Pathogenic/Likely pathogenic ★★ same type
- BCS1L c.321-2A>G Likely pathogenic ★★ same type
- BCS1L c.889+1G>T Pathogenic/Likely pathogenic ★★ same type
- BCS1L c.889+2T>G Likely pathogenic ★★ same type
- BCS1L c.-50+388C>G Likely pathogenic ★★ same type
- BCS1L c.-50+405A>G Pathogenic/Likely pathogenic ★★ same type
- BCS1L p.Arg109Trp 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/bcs1l-p-pro231 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown