STRC p.Ala134=
c.402A>C · VCV4821032
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0633%, amr)
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 0.68 | GERP 0.72, phastCons 1 |
| Overall | ||
| CADD | 9.526 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0633%
Admixed American · 37/58,428 alleles
Filtering AF
0.0471%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0416%
Overall
0.00232%
37/1,598,018 alleles · ultra-rare
exomes 35/1,446,044 · genomes 2/151,974 · joint denominator
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.Ala134=
- Coding
- c.402A>C
- MANE Select
- NM_153700
- Type
- single nucleotide variant
- Location
- chr15:43618019 (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-ala134 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown