Is ACTR1B p.Gly343= (c.1029C>T) pathogenic?

ACTR1B p.Gly343= (c.1029C>T) is classified Likely benign in ACTR1B (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-09). Very rare (popmax 0.00939%, afr).

How common is ACTR1B p.Gly343= (c.1029C>T) in the general population?

ACTR1B p.Gly343= (c.1029C>T) is very rare (popmax 0.00939%, afr) (gnomAD).

ACTR1B p.Gly343=

c.1029C>T · VCV3484917

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00939%, afr)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	all four deltas below 0.2 · G>T here scores Δ0.29 · evaluated, not missing
Constraint at this position
Conservation	phyloP -4	GERP -3.7
Overall
CADD	0.048	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00939% African / African-American · 7/74,530 alleles

Filtering AF 0.00439% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0031%

Overall 0.000754% 12/1,591,528 alleles · very rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00939%	10,647
Admixed American	0.00179%	55,870
South Asian	0.00114%	87,976
European (non-Finnish)	0.000257%	389,493

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: ACTR1B
Protein: p.Gly343=
Coding: c.1029C>T
MANE Select: NM_005735
Type: single nucleotide variant
Location: chr2:97656960 (GRCh38)
Gene constraint: LOEUF 0.968 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 93.34

Full ACTR1B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ACTR1B p.Phe211Leu Uncertain significance ★★ ⚠ same type
ACTR1B p.Ala124Val Uncertain significance ★ ⚠ same type
ACTR1B p.Ala149Thr Uncertain significance ★ ⚠ same type
ACTR1B p.Ala209Pro Uncertain significance ★ ⚠ same type
ACTR1B p.Arg188Cys Uncertain significance ★ ⚠ same type
ACTR1B p.Arg188His Uncertain significance ★ ⚠ same type
ACTR1B p.Arg192Cys Uncertain significance ★ ⚠ same type
ACTR1B p.Arg192His Uncertain significance ★ ⚠ 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/actr1b-p-gly343 (accessed [today's date]).

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