Is FUS p.Arg495= (c.1485A>T) pathogenic?

FUS p.Arg495= (c.1485A>T) is classified Likely benign in FUS (ClinVar, Single submitter, 1 submitter; last evaluated 2019-10-31). Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with FUS p.Arg495= (c.1485A>T)?

FUS p.Arg495= (c.1485A>T) is associated with Inborn genetic diseases (ClinVar).

How common is FUS p.Arg495= (c.1485A>T) in the general population?

FUS p.Arg495= (c.1485A>T) is absent from gnomAD v4.1 (gnomAD).

FUS p.Arg495=

c.1485A>T · rs2079349507 · VCV1773648

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

Inborn genetic diseases

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 8	GERP 1.2, phastCons 1
Overall
CADD	12.51	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: FUS
Protein: p.Arg495=
Coding: c.1485A>T
MANE Select: NM_004960
dbSNP: rs2079349507
Type: single nucleotide variant
Location: chr16:31191054 (GRCh38)
Gene constraint: LOEUF 0.104 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 54.96 · 23 PDB
Residue 495: a modified residue (asymmetric dimethylarginine); the 'disordered' region

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

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

FUS p.Arg495Ter Pathogenic ★★ same residue
FUS p.Arg495Gln Uncertain significance ★ ⚠ same residue
FUS c.833-6A>G Uncertain significance ★★ same condition
FUS p.Arg269Trp Uncertain significance ★★ ⚠ same condition
FUS p.Arg472Cys Uncertain significance ★★ ⚠ same condition
FUS p.Arg498Gln Uncertain significance ★★ same condition
FUS p.Gln199Glu Uncertain significance ★★ ⚠ same condition
FUS p.Gly515Ser Uncertain significance ★★ ⚠ same condition

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/fus-p-arg495 (accessed [today's date]).

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