Is ECPAS c.-330G>C pathogenic?

ECPAS c.-330G>C is classified Uncertain significance in ECPAS (ClinVar, Single submitter, 1 submitter; last evaluated 2023-09-20). Very rare (popmax 8.48e-05%, nfe).

How common is ECPAS c.-330G>C in the general population?

ECPAS c.-330G>C is very rare (popmax 8.48e-05%, nfe) (gnomAD).

ECPAS c.-330G>C

rs1305522018 · VCV3087024

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 8.48e-05%, nfe)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.066	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.5	GERP 0.84, phastCons 0.89
Non-coding constraint	Z -0.82	1 kb window · o/e 1.05 · regional · uncalibrated
Overall
CADD	18.52	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.48e-05% European (non-Finnish) · 1/1,179,224 alleles

Overall 6.85e-05% 1/1,459,030 alleles · very rare

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: ECPAS
Coding: c.-330G>C
MANE Select: NM_001364929
dbSNP: rs1305522018
Type: single nucleotide variant
Location: chr9:111484363 (GRCh38)
Gene constraint: LOEUF 0.316 · pLI 1.00 (gnomAD)
Structure: AlphaFold pLDDT 84.03

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

Similar variants

ECPAS c.270+1G>T Uncertain significance ★ same type
ECPAS c.-128G>A Uncertain significance ★ same type
ECPAS c.-128G>C Uncertain significance ★ same type
ECPAS c.-138C>T Uncertain significance ★ same type
ECPAS c.-150C>T Uncertain significance ★ same type
ECPAS c.-152C>T Uncertain significance ★ same type
ECPAS c.-176C>G Uncertain significance ★ same type
ECPAS c.-186C>T 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/ecpas-c-minus-330g-c (accessed [today's date]).

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