POC1B p.Pro154=
c.462C>T · rs151210595 · VCV708545
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0998%, mid)
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 0.95 | GERP -4.2, phastCons 0.99 |
| Overall | ||
| CADD | 8.0 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0998%
Middle Eastern · 6/6,014 alleles
Filtering AF
0.0434%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0296%
Overall
0.00268%
42/1,569,484 alleles · ultra-rare
exomes 18/1,448,566 · genomes 24/120,918 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0998% | 1,002 |
| African / African-American | 0.0438% | 2,284 |
| Remaining individualsnot grpmax-eligible | 0.00487% | 20,548 |
| South Asian | 0.00224% | 44,697 |
| Admixed American | 0.00176% | 56,684 |
| European (non-Finnish) | 0.000259% | 386,506 |
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
- POC1B
- Protein
- p.Pro154=
- Coding
- c.462C>T
- MANE Select
- NM_172240
- dbSNP
- rs151210595
- Type
- single nucleotide variant
- Location
- chr12:89472266 (GRCh38)
- Gene constraint
- LOEUF 0.967 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 77.62
Similar variants
- POC1B p.Pro154Ser Uncertain significance ★★ ⚠ same residue
- POC1B c.101-3T>G Pathogenic/Likely pathogenic ★★ same type
- POC1B c.560+2T>G Pathogenic ★★ same type
- POC1B c.676+1G>A Pathogenic/Likely pathogenic ★★ same type
- POC1B c.810+1G>T Pathogenic ★★ same type
- POC1B p.Arg106Pro Pathogenic ★★ ⚠ same type
- POC1B p.Arg80Ter Pathogenic/Likely pathogenic ★★ same type
- POC1B c.1032+4A>G 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/poc1b-p-pro154 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown