SGMS2 p.Ser364=
c.1092G>A · rs182391133 · VCV2197406
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0803%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not looked up on this page · why |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.84 | GERP -4.5, phastCons 0.01 |
| Overall | ||
| CADD | 9.169 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0803%
East Asian · 36/44,812 alleles
Filtering AF
0.0597%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0525%
Overall
0.0104%
168/1,613,712 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.0803% | 1,245 |
| African / African-American | 0.052% | 1,923 |
| Remaining individualsnot grpmax-eligible | 0.04% | 2,499 |
| South Asian | 0.00659% | 15,172 |
| Admixed American | 0.005% | 19,992 |
| European (non-Finnish) | 0.005% | 19,998 |
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
- SGMS2
- Protein
- p.Ser364=
- Coding
- c.1092G>A
- dbSNP
- rs182391133
- Type
- single nucleotide variant
- Location
- chr4:107910547 (GRCh38)
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/sgms2-p-ser364 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown