Is GABRB3 p.Phe331fs (c.992del) pathogenic?

GABRB3 p.Phe331fs (c.992del) is classified Uncertain significance in GABRB3 (ClinVar, Single submitter, 1 submitter; last evaluated 2020-02-18). No gnomAD frequency available for this variant.

How common is GABRB3 p.Phe331fs (c.992del) in the general population?

GABRB3 p.Phe331fs (c.992del) is no gnomAD frequency available for this variant (gnomAD).

GABRB3 p.Phe331fs

c.992del · rs2140679951 · VCV1316085

Uncertain significance Single submitter

Classification

Uncertain significance

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 in a LoF-intolerant gene
NMD	predicted	premature termination codon in exon 8 of 9
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.4	GERP 2.6, 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: GABRB3
Protein: p.Phe331fs
Coding: c.992del
MANE Select: NM_000814
dbSNP: rs2140679951
Type: Deletion
Location: chr15:26561020 (GRCh38)
Gene constraint: LOEUF 0.439 · pLI 1.00 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 80.64 · 109 PDB
Residue 331: an α-helix

Full GABRB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

GABRB3 p.Thr135_Val136insTer Pathogenic ★★ same type
GABRB3 c.172+3_172+6del Uncertain significance ★★ same type
GABRB3 c.172+1del Pathogenic ★ same type
GABRB3 p.Asn125fs Pathogenic ★ same type
GABRB3 p.Asp352fs Pathogenic ★ same type
GABRB3 p.Pro16fs Pathogenic ★ same type
GABRB3 p.Tyr151fs Pathogenic ★ same type
GABRB3 p.Val136fs 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/gabrb3-p-phe331fs (accessed [today's date]).

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