UTRN p.Pro2817=
c.8451G>A · rs147309348 · VCV721076
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0428%, afr)
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 -10 | GERP -5.2 |
| Overall | ||
| CADD | 3.656 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0428%
African / African-American · 32/74,798 alleles
Filtering AF
0.0311%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0271%
Overall
0.015%
242/1,610,168 alleles · ultra-rare
exomes 208/1,458,092 · genomes 34/152,076 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0428% | 2,337 |
| South Asian | 0.0376% | 2,662 |
| European (non-Finnish) | 0.0138% | 7,226 |
| Remaining individualsnot grpmax-eligible | 0.00963% | 10,387 |
| Admixed American | 0.00838% | 11,930 |
| Ashkenazi Jewishnot grpmax-eligible | 0.00339% | 29,498 |
| Finnishnot grpmax-eligible | 0.00156% | 63,952 |
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.Pro2817=
- Coding
- c.8451G>A
- MANE Select
- NM_007124
- dbSNP
- rs147309348
- Type
- single nucleotide variant
- Location
- chr6:144757945 (GRCh38)
- Gene constraint
- LOEUF 0.665 · pLI <0.01 (gnomAD)
- Residue 2817
- the ww domain; the 'interaction with synm' region
Similar variants
- UTRN p.Pro2817Leu 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-pro2817 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown