Is UACA p.Thr51= (c.153C>G) pathogenic?

UACA p.Thr51= (c.153C>G) is classified Benign in UACA (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-10-17). Common (popmax 89.4%, amr) — too common for a highly-penetrant pathogenic allele; Associated with UACA-related disorder.

What condition is associated with UACA p.Thr51= (c.153C>G)?

UACA p.Thr51= (c.153C>G) is associated with UACA-related disorder (ClinVar).

UACA p.Thr51=

Q: How common is UACA p.Thr51= (c.153C>G) in the general population?

UACA p.Thr51= (c.153C>G) is common (popmax 89.4%, amr) — too common for a highly-penetrant pathogenic allele (gnomAD).

c.153C>G · rs4776525 · VCV3059942

Benign No assertion criteria

Classification

Benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Common

common (popmax 89.4%, amr) — too common for a highly-penetrant pathogenic allele

Conditions

UACA-related disorder

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 2.1	GERP -1.1, phastCons 1
Overall
CADD	8.446	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 89.4% Admixed American · 52,870/59,126 alleles

Filtering AF 88.8% ClinGen BA1/BS1 input FAF95, joint · FAF99 88.5%

Overall 85.5% 1,375,389/1,608,862 alleles · common exomes 1,256,900/1,461,358 · genomes 118,489/147,504 · joint denominator

Ancestry group	Frequency	1 in
Admixed Americangrpmax	89.4%	1
Ashkenazi Jewishnot grpmax-eligible	88.5%	1
European (non-Finnish)	88.3%	1
Amishnot grpmax-eligible	88.2%	1
Middle Eastern	86.1%	1
Remaining individualsnot grpmax-eligible	84%	1
Finnishnot grpmax-eligible	82.1%	1
South Asian	80.5%	1
African / African-American	65%	2
East Asian	53.6%	2

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: UACA
Protein: p.Thr51=
Coding: c.153C>G
MANE Select: NM_018003
dbSNP: rs4776525
Type: single nucleotide variant
Location: chr15:70699586 (GRCh38)
Gene constraint: LOEUF 0.833 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 74.08

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

Disease context

UACA-related disorder

Similar variants

UACA p.Thr51Ile Uncertain significance ★ ⚠ same residue
UACA c.79-6T>C Benign same condition
UACA c.822+5A>G Benign same condition
UACA c.999+9A>G Likely benign same condition
UACA p.Ala108= Likely benign same condition
UACA p.Ala621= Likely benign same condition
UACA p.Asn1336= Benign same condition
UACA p.Asn1336Ser Likely benign same condition

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/uaca-p-thr51 (accessed [today's date]).

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