STRC p.Thr226=
c.678A>T · rs727503452 · VCV165323
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.617%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -2.5 | GERP -3.7 |
| Overall | ||
| CADD | 3.379 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.617%
South Asian · 513/83,148 alleles
Filtering AF
0.573%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.555%
Overall
0.0405%
562/1,386,290 alleles · rare
exomes 551/1,255,038 · genomes 11/131,252 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.617% | 162 |
| Middle Eastern | 0.174% | 575 |
| Remaining individualsnot grpmax-eligible | 0.0309% | 3,232 |
| Ashkenazi Jewishnot grpmax-eligible | 0.0036% | 27,806 |
| African / African-American | 0.00335% | 29,868 |
| European (non-Finnish) | 0.0021% | 47,674 |
| Admixed American | 0.00187% | 53,590 |
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
- STRC
- Protein
- p.Thr226=
- Coding
- c.678A>T
- MANE Select
- NM_153700
- dbSNP
- rs727503452
- Type
- single nucleotide variant
- Location
- chr15:43617743 (GRCh38)
- Gene constraint
- LOEUF 0.713 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.21
Similar variants
- STRC c.4219-1G>A Pathogenic/Likely pathogenic ★★ same type
- STRC c.4701+1G>A Pathogenic/Likely pathogenic ★★ same type
- STRC p.Arg1073Ter Pathogenic ★★ same type
- STRC p.Arg1154Ter Pathogenic/Likely pathogenic ★★ same type
- STRC p.Arg1224Ter Pathogenic ★★ same type
- STRC p.Arg1338Ter Pathogenic/Likely pathogenic ★★ same type
- STRC p.Arg1451Ter Pathogenic/Likely pathogenic ★★ same type
- STRC p.Arg1468Ter Pathogenic ★★ 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/strc-p-thr226 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown