PRMT8

Chr 12

protein arginine methyltransferase 8

Also known as: HRMT1L3, HRMT1L4

PRMT8 encodes a membrane-associated arginine methyltransferase that catalyzes monomethylation and asymmetric dimethylation of proteins including myelin basic protein and histones, playing roles in DNA repair, RNA transcription, and signal transduction. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.30), but no specific disease associations have been established in the provided data. An inheritance pattern cannot be determined without identified disease-causing mutations.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
5
Pubs (1 yr)
63
P/LP submissions
0%
P/LP missense
0.30
LOEUF· LoF intol.
Mechanism
Clinical SummaryPRMT8
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.98). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
63 unique Pathogenic / Likely Pathogenic· 36 VUS of 114 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Dual constrained — LoF & missense intolerant
LoF Constraint
0.30LOEUF
pLI 0.980
Z-score 3.82
OE 0.10 (0.040.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.46Z-score
OE missense 0.37 (0.310.44)
87 obs / 236.6 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.10 (0.040.30)
00.351.4
Missense OE0.37 (0.310.44)
00.61.4
Synonymous OE0.96
01.21.6
LoF obs/exp: 2 / 20.8Missense obs/exp: 87 / 236.6Syn Z: 0.28

ClinVar Variant Classifications

114 submitted variants in ClinVar

Classification Summary

Pathogenic59
Likely Pathogenic4
VUS36
Likely Benign2
Benign3
59
Pathogenic
4
Likely Pathogenic
36
VUS
2
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
59
0
59
Likely Pathogenic
0
0
4
0
4
VUS
0
27
9
0
36
Likely Benign
0
1
1
0
2
Benign
0
0
0
3
3
Total028733104

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

PRMT8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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