PRMT8 p.Arg350=
c.1050G>A · rs71534238 · VCV750160
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.45%, eas)
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 -0.3 | GERP -3.7, phastCons 0.007 |
| Overall | ||
| CADD | 5.705 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.45%
East Asian · 635/43,756 alleles
Filtering AF
1.36%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.32%
Overall
0.0435%
695/1,599,392 alleles · low-frequency
exomes 653/1,447,492 · genomes 42/151,900 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.45% | 69 |
| Ashkenazi Jewishnot grpmax-eligible | 0.075% | 1,334 |
| Middle Eastern | 0.0166% | 6,026 |
| Remaining individualsnot grpmax-eligible | 0.00967% | 10,336 |
| African / African-American | 0.00809% | 12,361 |
| European (non-Finnish) | 0.00196% | 51,042 |
| Admixed American | 0.00174% | 57,516 |
| South Asian | 0.00114% | 87,842 |
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.Arg350=
- Coding
- c.1050G>A
- MANE Select
- NM_019854
- dbSNP
- rs71534238
- Type
- single nucleotide variant
- Location
- chr12:3592301 (GRCh38)
- Gene constraint
- LOEUF 0.293 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 86.66 · 2 PDB
- Residue 350
- the sam-dependent mtase prmt-type domain
Similar variants
- 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
- PRMT8 p.Asn160Asp 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-arg350 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown