Is UTRN p.Arg264Cys (c.790C>T) pathogenic?

UTRN p.Arg264Cys (c.790C>T) is classified Uncertain significance in UTRN (ClinVar, Single submitter, 1 submitter; last evaluated 2022-05-27). AlphaMissense: likely benign (0.1062); Ultra-rare (popmax 0.0253%, sas).

How common is UTRN p.Arg264Cys (c.790C>T) in the general population?

UTRN p.Arg264Cys (c.790C>T) is ultra-rare (popmax 0.0253%, sas) (gnomAD).

What do computational predictors say about UTRN p.Arg264Cys (c.790C>T)?

AlphaMissense predicts likely benign (score 0.1062) — an in-silico prediction, not a clinical call.

UTRN p.Arg264Cys

c.790C>T · rs765704454 · VCV2291849

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1062 · ACMG-weighted

gnomAD v4.1

Rare

ultra-rare (popmax 0.0253%, sas)

Computational evidence

Protein change
AlphaMissense	0.1062	likely benign
REVEL	0.308	indeterminate
SaProt	—	not scored · why
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 4	GERP 2.1, phastCons 1
Regional constraint	o/e 0.81	unconstrained · MANE · 138 kb · p 0.00042 · regional, not allelic
Overall
CADD	27.9	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL is an independent agreement signal.

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0253% South Asian · 23/90,750 alleles

Filtering AF 0.0172% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.0146%

Overall 0.00242% 39/1,612,390 alleles · ultra-rare exomes 37/1,460,480 · genomes 2/151,910 · joint denominator

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0253%	3,946
East Asian	0.00446%	22,417
Admixed American	0.00167%	59,856
African / African-American	0.00134%	74,746
European (non-Finnish)	0.00102%	98,270

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: UTRN
Protein: p.Arg264Cys
Coding: c.790C>T
MANE Select: NM_007124
dbSNP: rs765704454
Type: single nucleotide variant
Location: chr6:144429676 (GRCh38)
Gene constraint: LOEUF 0.665 · pLI <0.01 (gnomAD)

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

Similar variants

UTRN c.4437+9T>C Benign/Likely benign ★★ same type
UTRN c.4594-8C>T Benign/Likely benign ★★ same type
UTRN p.Arg1625Lys Likely benign ★★ same type
UTRN p.Arg1967Trp Benign/Likely benign ★★ same type
UTRN p.Gly1862Glu Likely benign ★★ same type
UTRN p.Ile2227Val Likely benign ★★ same type
UTRN p.Ser1561Cys Likely benign ★★ same type
UTRN p.Thr2288= Likely benign ★★ 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/utrn-p-arg264cys (accessed [today's date]).

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