Is ANG p.Asp47= (c.141C>T) pathogenic?

ANG p.Asp47= (c.141C>T) is classified Likely benign in ANG (ClinVar, Single submitter, 1 submitter; last evaluated 2025-11-03). Absent from gnomAD v4.1.

How common is ANG p.Asp47= (c.141C>T) in the general population?

ANG p.Asp47= (c.141C>T) is absent from gnomAD v4.1 (gnomAD).

ANG p.Asp47=

c.141C>T · rs1187158913 · VCV1945561

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

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 0.36	GERP -0.67
Overall
CADD	5.271	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: ANG
Protein: p.Asp47=
Coding: c.141C>T
MANE Select: NM_001097577
dbSNP: rs1187158913
Type: single nucleotide variant
Location: chr14:20693705 (GRCh38)
Gene constraint: LOEUF 1.697 · pLI 0.42 (gnomAD)
Structure: AlphaFold pLDDT 90.50 · 56 PDB
Residue 47: an α-helix

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

Similar variants

ANG p.Arg75His Uncertain significance ★★ ⚠ same type
ANG p.Gly123Ala Uncertain significance ★★ ⚠ same type
ANG p.Gly15Ser Uncertain significance ★★ ⚠ same type
ANG p.Lys78Glu Uncertain significance ★★ ⚠ same type
ANG p.Pro21Leu Uncertain significance ★★ ⚠ same type
ANG p.Pro21Ser Uncertain significance ★★ ⚠ same type
ANG c.-18-222G>C Benign ★★ same type
ANG c.-237A>C 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/ang-p-asp47 (accessed [today's date]).

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