Is PRMT7 p.Asp283fs (c.847del) pathogenic?

PRMT7 p.Asp283fs (c.847del) is classified Pathogenic in PRMT7 (ClinVar, Single submitter, 1 submitter; last evaluated 2023-08-19). No gnomAD frequency available for this variant.

How common is PRMT7 p.Asp283fs (c.847del) in the general population?

PRMT7 p.Asp283fs (c.847del) is no gnomAD frequency available for this variant (gnomAD).

PRMT7 p.Asp283fs

c.847del · rs2544840110 · VCV2754073

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 9 of 19
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.9	GERP 2.7, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: PRMT7
Protein: p.Asp283fs
Coding: c.847del
MANE Select: NM_019023
dbSNP: rs2544840110
Type: Deletion
Location: chr16:68339886 (GRCh38)
Gene constraint: LOEUF 1.01 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.19
Residue 283: the sam-dependent mtase prmt-type 1 domain

Full PRMT7 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

PRMT7 p.Asp283Glu Uncertain significance ★ ⚠ same residue
PRMT7 p.Ser158fs Pathogenic/Likely pathogenic ★★ same type
PRMT7 p.Asp43fs Pathogenic ★ same type
PRMT7 p.Gln208fs Pathogenic ★ same type
PRMT7 p.Glu560fs Pathogenic ★ same type
PRMT7 p.Leu594fs Likely pathogenic ★ same type
PRMT7 p.Lys65fs Pathogenic ★ same type
PRMT7 p.Tyr26fs Pathogenic ★ 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/prmt7-p-asp283fs (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown