STRC p.Val724=
c.2172T>C · rs1308469405 · VCV505236
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00693%, eas)
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 0.56 | GERP -0.75, phastCons 0.86 |
| Overall | ||
| CADD | 8.683 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00693%
East Asian · 2/28,862 alleles
Filtering AF
0.00115%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000429%
Overall
0.00062%
4/645,220 alleles · very rare
exomes 3/580,700 · genomes 1/64,520 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00693% | 14,431 |
| Admixed American | 0.00279% | 35,800 |
| European (non-Finnish) | 0.000238% | 421,010 |
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.Val724=
- Coding
- c.2172T>C
- MANE Select
- NM_153700
- dbSNP
- rs1308469405
- Type
- single nucleotide variant
- Location
- chr15:43614438 (GRCh38)
- Gene constraint
- LOEUF 0.713 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 69.21
Similar variants
- STRC p.Val724fs Pathogenic ★★ same residue
- 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
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-val724 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown