Is FUS p.Gln88= (c.264A>G) pathogenic?

FUS p.Gln88= (c.264A>G) is classified Likely benign in FUS (ClinVar, Single submitter, 1 submitter; last evaluated 2024-02-26). Very rare (popmax 0.00223%, eas); Associated with Inborn genetic diseases.

What condition is associated with FUS p.Gln88= (c.264A>G)?

FUS p.Gln88= (c.264A>G) is associated with Inborn genetic diseases (ClinVar).

How common is FUS p.Gln88= (c.264A>G) in the general population?

FUS p.Gln88= (c.264A>G) is very rare (popmax 0.00223%, eas) (gnomAD).

FUS p.Gln88=

c.264A>G · rs765871198 · VCV3224532

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00223%, eas)

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 -2.2	GERP -4
Overall
CADD	0.704	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00223% East Asian · 1/44,890 alleles

Filtering AF 0.000763% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.000605%

Overall 0.00118% 19/1,613,772 alleles · very rare exomes 18/1,461,620 · genomes 1/152,152 · joint denominator

Ancestry group	Frequency	1 in
East Asiangrpmax	0.00223%	44,890
South Asian	0.0022%	45,528
Admixed American	0.00167%	59,994
European (non-Finnish)	0.00127%	78,655

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: FUS
Protein: p.Gln88=
Coding: c.264A>G
MANE Select: NM_004960
dbSNP: rs765871198
Type: single nucleotide variant
Location: chr16:31183931 (GRCh38)
Gene constraint: LOEUF 0.104 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 54.96 · 23 PDB
Residue 88: 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 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
FUS p.Pro152Ser Uncertain significance ★★ ⚠ same condition
FUS p.Tyr397Cys 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-gln88 (accessed [today's date]).

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