Is ENG p.Ser484= (c.1452C>T) pathogenic?

ENG p.Ser484= (c.1452C>T) is classified Benign/Likely benign in ENG (ClinVar, Multiple submitters, 8 submitters; last evaluated 2026-03-01). Rare (popmax 0.85%, afr); Associated with Cardiovascular phenotype.

What condition is associated with ENG p.Ser484= (c.1452C>T)?

ENG p.Ser484= (c.1452C>T) is associated with Cardiovascular phenotype, telangiectasia, hereditary hemorrhagic, type 1, hereditary hemorrhagic telangiectasia (ClinVar).

How common is ENG p.Ser484= (c.1452C>T) in the general population?

ENG p.Ser484= (c.1452C>T) is rare (popmax 0.85%, afr) (gnomAD).

ENG p.Ser484=

c.1452C>T · rs115450389 · VCV255142

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 8 submitters

gnomAD v4.1

Rare

rare (popmax 0.85%, afr)

Conditions

Cardiovascular phenotype

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -2.5	GERP -3.2
Overall
CADD	4.199	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.85% African / African-American · 638/75,042 alleles

Filtering AF 0.796% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.774%

Overall 0.0899% 1,451/1,613,796 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.85%	118
Middle Eastern	0.363%	276
Admixed American	0.193%	517
Remaining individualsnot grpmax-eligible	0.171%	584
European (non-Finnish)	0.0468%	2,138
Ashkenazi Jewishnot grpmax-eligible	0.0236%	4,229
South Asian	0.00878%	11,386
East Asian	0.00223%	44,888

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: ENG
Protein: p.Ser484=
Coding: c.1452C>T
dbSNP: rs115450389
Type: single nucleotide variant
Location: chr9:127818354 (GRCh38)

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

Disease context

Cardiovascular phenotype — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: telangiectasia, hereditary hemorrhagic, type 1 hereditary hemorrhagic telangiectasia

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/eng-p-ser484 (accessed [today's date]).

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