Is AGTR2 p.Asp45= (c.135T>C) pathogenic?

AGTR2 p.Asp45= (c.135T>C) is classified Likely benign in AGTR2 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-07-30). Very rare (popmax 0.000112%, nfe).

How common is AGTR2 p.Asp45= (c.135T>C) in the general population?

AGTR2 p.Asp45= (c.135T>C) is very rare (popmax 0.000112%, nfe) (gnomAD).

AGTR2 p.Asp45=

c.135T>C · VCV4952469

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.000112%, nfe)

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 0.92	GERP -1.7, phastCons 1
Overall
CADD	4.028	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.000112% European (non-Finnish) · 1/894,754 alleles

Overall 8.26e-05% 1/1,210,953 alleles · very rare exomes 1/1,097,245 · genomes 0/113,708 · joint denominator

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: AGTR2
Protein: p.Asp45=
Coding: c.135T>C
MANE Select: NM_000686
Type: single nucleotide variant
Location: chrX:116172415 (GRCh38)
Structure: AlphaFold pLDDT 82.34 · 7 PDB
Residue 45: an α-helix

Full AGTR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

AGTR2 p.His237Gln Uncertain significance ★★ ⚠ same type
AGTR2 p.Arg248Lys Benign ★★ same type
AGTR2 p.Gly21Val Benign/Likely benign ★★ same type
AGTR2 p.Ile337= Benign ★★ same type
AGTR2 p.Leu166= Benign ★★ same type
AGTR2 p.Ala171Val Uncertain significance ★ ⚠ same type
AGTR2 p.Ala212Gly Uncertain significance ★ ⚠ same type
AGTR2 p.Asn29Ser 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/agtr2-p-asp45 (accessed [today's date]).

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