GSC p.Ser76=
c.228C>A · rs2503562892 · VCV3047154
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no allele count reported in gnomAD v4.1 (AN 1,425,856)
Conditions
1
GSC-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 1.7 | GERP 0.33, phastCons 1 |
| Overall | ||
| CADD | 12.7 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
No allele count reported in gnomAD v4.1 (AN 1,425,856). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- GSC
- Protein
- p.Ser76=
- Coding
- c.228C>A
- MANE Select
- NM_173849
- dbSNP
- rs2503562892
- Type
- single nucleotide variant
- Location
- chr14:94769788 (GRCh38)
- Gene constraint
- LOEUF 1.398 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 65.68 · 1 PDB
Disease context
GSC-related disorder
Similar variants
- GSC c.616-2A>G Likely pathogenic ★ same condition
- GSC p.Ala26Val Uncertain significance ★★ ⚠ same type
- GSC p.Ala30Val Uncertain significance ★★ ⚠ same type
- GSC p.Lys183Gln Uncertain significance ★★ ⚠ same type
- GSC p.Tyr54Ser Uncertain significance ★★ ⚠ same type
- GSC c.356-186C>T Benign ★★ same type
- GSC p.Ala72Thr Benign ★★ same type
- GSC p.Asn140= 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/gsc-p-ser76 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown