PLCB1 p.Glu641=
c.1923A>G · rs751738226 · VCV3067756
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00669%, eas)
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 0.56 | GERP -3.6, phastCons 0.88 |
| Overall | ||
| CADD | 8.526 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00669%
East Asian · 3/44,852 alleles
Filtering AF
0.00177%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000892%
Overall
0.000186%
3/1,614,038 alleles · very rare
exomes 3/1,461,746 · genomes 0/152,292 · 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
- PLCB1
- Protein
- p.Glu641=
- Coding
- c.1923A>G
- MANE Select
- NM_015192
- dbSNP
- rs751738226
- Type
- single nucleotide variant
- Location
- chr20:8733272 (GRCh38)
- Gene constraint
- LOEUF 0.357 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 84.55
- Residue 641
- the pi-plc y-box domain
Similar variants
- PLCB1 p.Arg222Ter Pathogenic/Likely pathogenic ★★ same type
- PLCB1 p.Arg815Ter Pathogenic/Likely pathogenic ★★ same type
- PLCB1 c.3336+3A>G Uncertain significance ★★ same type
- PLCB1 p.Ala1046Ser Uncertain significance ★★ ⚠ same type
- PLCB1 p.Ala1046Thr Uncertain significance ★★ ⚠ same type
- PLCB1 p.Ala1116Val Uncertain significance ★★ ⚠ same type
- PLCB1 p.Ala1182Val Uncertain significance ★★ ⚠ same type
- PLCB1 p.Ala155Val 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/plcb1-p-glu641 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown