UFSP2 p.Ala342=
c.1026A>G · VCV3352814
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.165%, mid)
Conditions
1
UFSP2-related disorder
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.018 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.23 | GERP -3.4 |
| Overall | ||
| CADD | 2.549 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.165%
Middle Eastern · 10/6,062 alleles
Filtering AF
0.0895%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0681%
Overall
0.000867%
14/1,613,976 alleles · rare
exomes 10/1,461,658 · genomes 4/152,318 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.165% | 606 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,508 |
| European (non-Finnish) | 0.000254% | 393,275 |
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
- UFSP2
- Protein
- p.Ala342=
- Coding
- c.1026A>G
- MANE Select
- NM_018359
- Type
- single nucleotide variant
- Location
- chr4:185408031 (GRCh38)
- Gene constraint
- LOEUF 0.935 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 91.21
Disease context
UFSP2-related disorder
Similar variants
- UFSP2 p.Tyr290His Pathogenic ★ same condition
- UFSP2 p.Ala333Thr Likely benign same condition
- UFSP2 p.Val345= Likely benign same condition
- UFSP2 p.Asp426Ala Pathogenic ★★ same type
- UFSP2 p.His428Arg Likely pathogenic ★★ same type
- UFSP2 p.Gly286Ala Uncertain significance ★★ ⚠ same type
- UFSP2 p.Gly346Arg Uncertain significance ★★ ⚠ same type
- UFSP2 p.Ala432= 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/ufsp2-p-ala342 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown