UTRN p.Asp1133=
c.3399C>T · rs34780332 · VCV780664
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 10%, afr) — too common for a highly-penetrant pathogenic allele
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 1.1 | GERP -0.68, phastCons 1 |
| Overall | ||
| CADD | 9.729 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
10%
African / African-American · 7,522/74,986 alleles
Filtering AF
9.84%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 9.76%
Overall
0.548%
8,849/1,614,028 alleles · common
exomes 4,514/1,461,818 · genomes 4,335/152,210 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 10% | 10 |
| Admixed American | 0.708% | 141 |
| Remaining individualsnot grpmax-eligible | 0.696% | 144 |
| Middle Eastern | 0.528% | 189 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0473% | 2,115 |
| European (non-Finnish) | 0.0337% | 2,965 |
| South Asian | 0.0253% | 3,959 |
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.Asp1133=
- Coding
- c.3399C>T
- MANE Select
- NM_007124
- dbSNP
- rs34780332
- Type
- single nucleotide variant
- Location
- chr6:144479874 (GRCh38)
- Gene constraint
- LOEUF 0.665 · pLI <0.01 (gnomAD)
Similar variants
- UTRN p.Asp1133Gly Uncertain significance ★ same residue
- 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
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-asp1133 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown