PRMT8 p.Asp78=
c.234C>T · rs74678751 · VCV776687
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
low-frequency (popmax 2.55%, 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 1.7 | GERP 0.84, phastCons 1 |
| Overall | ||
| CADD | 10.94 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.55%
African / African-American · 1,917/75,044 alleles
Filtering AF
2.46%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.42%
Overall
0.166%
2,676/1,614,052 alleles · low-frequency
exomes 1,491/1,461,716 · genomes 1,185/152,336 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 2.55% | 39 |
| Middle Eastern | 0.611% | 164 |
| Ashkenazi Jewishnot grpmax-eligible | 0.487% | 205 |
| Admixed American | 0.312% | 321 |
| Remaining individualsnot grpmax-eligible | 0.272% | 368 |
| South Asian | 0.13% | 772 |
| European (non-Finnish) | 0.00864% | 11,568 |
| East Asian | 0.00223% | 44,886 |
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.Asp78=
- Coding
- c.234C>T
- MANE Select
- NM_019854
- dbSNP
- rs74678751
- Type
- single nucleotide variant
- Location
- chr12:3540764 (GRCh38)
- Gene constraint
- LOEUF 0.293 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 86.66 · 2 PDB
- Residue 78
- the sam-dependent mtase prmt-type domain
Similar variants
- 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
- PRMT8 p.Asn160His 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-asp78 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown