OCA2 p.Ser242fs
c.724_725dup · VCV4077116
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
2
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 7 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP -1.5 | GERP -2.2 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- OCA2
- Protein
- p.Ser242fs
- Coding
- c.724_725dup
- MANE Select
- NM_000275
- Type
- Duplication
- Location
- chr15:28018478 (GRCh38)
- Gene constraint
- LOEUF 0.869 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 73.79
Similar variants
- OCA2 p.Ala686fs Pathogenic/Likely pathogenic ★★ same condition
- OCA2 p.His615fs Pathogenic ★★ same condition
- OCA2 p.Leu417fs Pathogenic/Likely pathogenic ★★ same condition
- OCA2 p.Arg167fs Likely pathogenic ★ same condition
- OCA2 p.Asp740Ter Likely pathogenic ★ same condition
- OCA2 p.His552fs Likely pathogenic ★ same condition
- OCA2 p.Leu236fs Likely pathogenic ★ same condition
- OCA2 p.Leu3fs Likely pathogenic ★ same condition
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/oca2-p-ser242fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown