Is ADGRA3 p.Arg944fs (c.2830dup) pathogenic?

ADGRA3 p.Arg944fs (c.2830dup) is classified Uncertain significance in ADGRA3 (ClinVar, Single submitter, 1 submitter; last evaluated 2022-09-19). Absent from gnomAD.

How common is ADGRA3 p.Arg944fs (c.2830dup) in the general population?

ADGRA3 p.Arg944fs (c.2830dup) is absent from gnomAD (gnomAD).

ADGRA3 p.Arg944fs

c.2830dup · rs2474688187 · VCV2031339

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
NMD	escapes	premature termination codon in the last exon (19 of 19) — the truncated protein is likely expressed. PVS1 input, not an applied code
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	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: ADGRA3
Protein: p.Arg944fs
Coding: c.2830dup
MANE Select: NM_145290
dbSNP: rs2474688187
Type: Duplication
Location: chr4:22388840 (GRCh38)
Gene constraint: LOEUF 0.607 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 70.20

Full ADGRA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ADGRA3 p.Asn1213fs Uncertain significance ★ same type
ADGRA3 p.Gly34_Gly35dup Uncertain significance ★ same type
ADGRA3 p.Gly714fs Uncertain significance ★ same type
ADGRA3 p.Leu17_Pro18insLeuLeu Uncertain significance ★ same type
ADGRA3 p.Leu28_Gly29insAlaLeuLeu Uncertain significance ★ same type
ADGRA3 p.Val666fs Uncertain significance ★ same type
ADGRA3 c.2358-7dup Benign ★ same type
ADGRA3 c.2627+15dup Likely benign ★ 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/adgra3-p-arg944fs (accessed [today's date]).

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