OCRL p.Asp708=
c.2124C>T · rs1452310953 · VCV1691793
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00173%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Splicing | ||
| SpliceAI | Δ0.22 | acceptor loss · deltas |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 7.6 | GERP 2.9, phastCons 1 |
| Overall | ||
| CADD | 11.11 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00173%
African / African-American · 1/57,717 alleles
Filtering AF
0.00101%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0008%
Overall
0.00132%
16/1,208,351 alleles · very rare
exomes 16/1,094,783 · genomes 0/113,568 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00173% | 57,717 |
| European (non-Finnish) | 0.00168% | 59,497 |
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
- OCRL
- Protein
- p.Asp708=
- Coding
- c.2124C>T
- MANE Select
- NM_000276
- dbSNP
- rs1452310953
- Type
- single nucleotide variant
- Location
- chrX:129584352 (GRCh38)
- Structure
- AlphaFold pLDDT 82.91 · 5 PDB
Similar variants
- OCRL c.1244+1G>A Pathogenic/Likely pathogenic ★★ same type
- OCRL c.1714-1G>A Pathogenic ★★ same type
- OCRL c.2256+1G>T Likely pathogenic ★★ same type
- OCRL c.560+1G>C Pathogenic/Likely pathogenic ★★ same type
- OCRL c.940-11G>A Pathogenic/Likely pathogenic ★★ same type
- OCRL p.Ala861Thr Pathogenic/Likely pathogenic ★★ ⚠ same type
- OCRL p.Arg318Cys Pathogenic/Likely pathogenic ★★ same type
- OCRL p.Arg318His 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/ocrl-p-asp708 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown