SSTR5 p.Ala212=
c.636G>A · rs35798577 · VCV3043767
Benign
No assertion criteria
Classification
Benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.71%, eas)
Conditions
1
SSTR5-related disorder
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 2.7 | GERP 0.62, phastCons 1 |
| Overall | ||
| CADD | 13.12 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.71%
East Asian · 768/44,846 alleles
Filtering AF
1.61%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.57%
Overall
0.0699%
1,126/1,611,860 alleles · low-frequency
exomes 963/1,459,516 · genomes 163/152,344 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.71% | 58 |
| Remaining individualsnot grpmax-eligible | 0.197% | 508 |
| South Asian | 0.111% | 901 |
| African / African-American | 0.028% | 3,573 |
| Middle Eastern | 0.0165% | 6,060 |
| Admixed American | 0.015% | 6,658 |
| European (non-Finnish) | 0.00856% | 11,677 |
| Finnishnot grpmax-eligible | 0.00319% | 31,344 |
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
- SSTR5
- Protein
- p.Ala212=
- Coding
- c.636G>A
- MANE Select
- NM_001172560
- dbSNP
- rs35798577
- Type
- single nucleotide variant
- Location
- chr16:1079504 (GRCh38)
- Gene constraint
- LOEUF 1.931 · pLI 0.12 (gnomAD)
- Structure
- AlphaFold pLDDT 81.91 · 7 PDB
- Residue 212
- an α-helix
Disease context
SSTR5-related disorder
Similar variants
- SSTR5 p.Ala212Thr Uncertain significance ★ ⚠ same residue
- SSTR5 p.Ala52= Benign same condition
- SSTR5 p.Cys237= Likely benign same condition
- SSTR5 p.Gly23= Likely benign same condition
- SSTR5 p.Thr98Met Uncertain significance ★★ ⚠ same type
- SSTR5 p.Ala161= Benign ★★ same type
- SSTR5 p.Ala231= Benign/Likely benign ★★ same type
- SSTR5 p.Arg240Trp Benign/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/sstr5-p-ala212 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown