PRMT8 p.Pro34=
c.102C>G · rs148005955 · VCV711562
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.97%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -3 | GERP -1.9 |
| Overall | ||
| CADD | 0.385 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.97%
African / African-American · 1,460/74,106 alleles
Filtering AF
1.89%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.85%
Overall
0.107%
1,699/1,582,670 alleles · low-frequency
exomes 818/1,430,874 · genomes 881/151,796 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 1.97% | 51 |
| Admixed American | 0.175% | 572 |
| Remaining individualsnot grpmax-eligible | 0.155% | 647 |
| Middle Eastern | 0.0333% | 3,001 |
| South Asian | 0.0133% | 7,505 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00683% | 14,648 |
| European (non-Finnish) | 0.00208% | 48,029 |
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
- PRMT8
- Protein
- p.Pro34=
- Coding
- c.102C>G
- MANE Select
- NM_019854
- dbSNP
- rs148005955
- Type
- single nucleotide variant
- Location
- chr12:3540632 (GRCh38)
- Gene constraint
- LOEUF 0.293 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 86.66 · 2 PDB
- Residue 34
- the 'disordered' region
Similar variants
- PRMT8 p.Pro34Leu Uncertain significance ★ ⚠ same residue
- PRMT8 p.Asp78= Benign ★★ same type
- PRMT8 p.Ala17Glu Uncertain significance ★ ⚠ same type
- PRMT8 p.Ala17Thr Uncertain significance ★ ⚠ same type
- PRMT8 p.Ala306Thr Uncertain significance ★ ⚠ same type
- PRMT8 p.Arg251Trp Uncertain significance ★ ⚠ same type
- PRMT8 p.Arg300Cys Uncertain significance ★ ⚠ same type
- PRMT8 p.Arg349Gln 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/prmt8-p-pro34 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown