ARSI p.Ser304=
c.912G>A · rs142802678 · VCV766841
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0334%, 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 -20 | GERP -3.4 |
| Overall | ||
| CADD | 0.046 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0334%
African / African-American · 25/74,902 alleles
Filtering AF
0.0231%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0198%
Overall
0.00378%
61/1,612,474 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0334% | 2,996 |
| Remaining individualsnot grpmax-eligible | 0.0048% | 20,823 |
| European (non-Finnish) | 0.00263% | 38,065 |
| Admixed American | 0.00167% | 60,004 |
| South Asian | 0.0011% | 91,072 |
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
- ARSI
- Protein
- p.Ser304=
- Coding
- c.912G>A
- MANE Select
- NM_001012301
- dbSNP
- rs142802678
- Type
- single nucleotide variant
- Location
- chr5:150298012 (GRCh38)
- Gene constraint
- LOEUF 1.403 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 87.35
Similar variants
- ARSI p.Ala216Thr Uncertain significance ★★ ⚠ same type
- ARSI p.Ala259Val Uncertain significance ★★ ⚠ same type
- ARSI p.Ala264Thr Uncertain significance ★★ ⚠ same type
- ARSI p.Ala399Asp Uncertain significance ★★ ⚠ same type
- ARSI p.Ala414Ser Uncertain significance ★★ ⚠ same type
- ARSI p.Ala414Thr Uncertain significance ★★ ⚠ same type
- ARSI p.Ala78Thr Uncertain significance ★★ ⚠ same type
- ARSI p.Arg117Cys Uncertain significance ★★ ⚠ 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/arsi-p-ser304 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown