OCA2 p.His552fs
c.1653dup · VCV3576935
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
oculocutaneous albinism type 2
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 16 of 24 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.3 | GERP -0.59, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- OCA2
- Protein
- p.His552fs
- Coding
- c.1653dup
- MANE Select
- NM_000275
- Type
- Duplication
- Location
- chr15:27957718 (GRCh38)
- Gene constraint
- LOEUF 0.869 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 73.79
Disease context
oculocutaneous albinism type 2 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Oculocutaneous albinism type 2 (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Infancy, Neonatal
- Prevalence
- 6-9 / 10 000 (Specific population)
Similar variants
- OCA2 p.His552= Conflicting classifications of pathogenicity ★ same residue
- OCA2 p.Ala686fs Pathogenic/Likely pathogenic ★★ same condition
- OCA2 p.His615fs Pathogenic ★★ same condition
- OCA2 p.Leu417fs Pathogenic/Likely pathogenic ★★ same condition
- OCA2 p.Asp740Ter Likely pathogenic ★ same condition
- OCA2 p.Leu3fs Likely pathogenic ★ same condition
- OCA2 p.Phe744fs Pathogenic ★ same condition
- OCA2 p.Ser242fs 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-his552fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown