Is UNC45A p.Arg894= (c.2682G>A) pathogenic?

UNC45A p.Arg894= (c.2682G>A) is classified Likely benign in UNC45A (ClinVar, Single submitter, 1 submitter; last evaluated 2023-11-07). Very rare (popmax 0.00534%, afr).

How common is UNC45A p.Arg894= (c.2682G>A) in the general population?

UNC45A p.Arg894= (c.2682G>A) is very rare (popmax 0.00534%, afr) (gnomAD).

UNC45A p.Arg894=

c.2682G>A · rs370879635 · VCV1572532

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00534%, afr)

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 0.77	GERP -1.5, phastCons 0.12
Overall
CADD	6.372	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00534% African / African-American · 4/74,944 alleles

Filtering AF 0.00175% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00104%

Overall 0.00031% 5/1,614,066 alleles · very rare exomes 2/1,461,840 · genomes 3/152,226 · joint denominator

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.00534%	18,736
South Asian	0.0011%	91,090

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: UNC45A
Protein: p.Arg894=
Coding: c.2682G>A
MANE Select: NM_018671
dbSNP: rs370879635
Type: single nucleotide variant
Location: chr15:90953563 (GRCh38)

Full UNC45A gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

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/unc45a-p-arg894 (accessed [today's date]).

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