Is ASB3 p.Cys295= (c.885C>T) pathogenic?

ASB3 p.Cys295= (c.885C>T) is classified Likely benign in ASB3 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-09-01). Very rare (popmax 8.47e-05%, nfe).

How common is ASB3 p.Cys295= (c.885C>T) in the general population?

ASB3 p.Cys295= (c.885C>T) is very rare (popmax 8.47e-05%, nfe) (gnomAD).

ASB3 p.Cys295=

c.885C>T · VCV3389648

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 8.47e-05%, nfe)

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.231	benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 5	GERP -0.87, phastCons 1
Overall
CADD	8.732	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 8.47e-05% European (non-Finnish) · 1/1,180,040 alleles

Overall 6.84e-05% 1/1,461,872 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: ASB3
Protein: p.Cys295=
Coding: c.885C>T
MANE Select: NM_016115
Type: single nucleotide variant
Location: chr2:53714479 (GRCh38)
Gene constraint: LOEUF 0.998 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 90.62

Full ASB3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ASB3 p.Asp294Gly Uncertain significance ★ ⚠ same type
ASB3 p.Gln309Arg Uncertain significance ★ ⚠ same type
CHAC2 p.Ala149Gly Uncertain significance ★ ⚠ same type
CHAC2 p.Ala64Thr Uncertain significance ★ ⚠ same type
CHAC2 p.Arg174Cys Uncertain significance ★ ⚠ same type
CHAC2 p.Arg174His Uncertain significance ★ ⚠ same type
CHAC2 p.Arg40His Uncertain significance ★ ⚠ same type
CHAC2 p.Asn154Lys 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/asb3-p-cys295 (accessed [today's date]).

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