Is UBTF p.Pro184= (c.552C>T) pathogenic?

UBTF p.Pro184= (c.552C>T) is classified Likely benign in UBTF (ClinVar, Single submitter, 1 submitter; last evaluated 2024-05-07). Ultra-rare (popmax 0.066%, mid).

How common is UBTF p.Pro184= (c.552C>T) in the general population?

UBTF p.Pro184= (c.552C>T) is ultra-rare (popmax 0.066%, mid) (gnomAD).

UBTF p.Pro184=

c.552C>T · VCV4935409

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.066%, mid)

⚠ 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 -0.81	GERP -4.8
Overall
CADD	5.516	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.066% Middle Eastern · 4/6,060 alleles

Filtering AF 0.0225% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0135%

Overall 0.00186% 30/1,614,016 alleles · ultra-rare exomes 23/1,461,722 · genomes 7/152,294 · joint denominator

Ancestry group	Frequency	1 in
Middle Easterngrpmax	0.066%	1,515
African / African-American	0.0107%	9,380
Remaining individualsnot grpmax-eligible	0.008%	12,498
South Asian	0.00549%	18,216
European (non-Finnish)	0.000678%	147,491

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: UBTF
Protein: p.Pro184=
Coding: c.552C>T
MANE Select: NM_014233
Type: single nucleotide variant
Location: chr17:44212927 (GRCh38)

Full UBTF 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/ubtf-p-pro184 (accessed [today's date]).

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