OCRL p.Ser642=
c.1926T>C · rs765596908 · VCV2050709
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00648%, nfe)
Conditions
1
oculocerebrorenal syndrome
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 0.28 | GERP -0.76, phastCons 1 |
| Overall | ||
| CADD | 9.176 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00648%
European (non-Finnish) · 58/894,842 alleles
Filtering AF
0.00508%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00465%
Overall
0.00521%
63/1,209,862 alleles · very rare
exomes 58/1,097,611 · genomes 5/112,251 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00648% | 15,428 |
| Remaining individualsnot grpmax-eligible | 0.0042% | 23,793 |
| African / African-American | 0.00349% | 28,628 |
| Admixed American | 0.00218% | 45,805 |
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.Ser642=
- Coding
- c.1926T>C
- MANE Select
- NM_000276
- dbSNP
- rs765596908
- Type
- single nucleotide variant
- Location
- chrX:129576363 (GRCh38)
- Structure
- AlphaFold pLDDT 82.91 · 5 PDB
- Residue 642
- an α-helix; the 'ash' region
Similar variants
- OCRL p.Ser642Pro Uncertain significance ★★ ⚠ same residue
- OCRL p.Ser642fs Pathogenic ★★ same residue
- OCRL c.1244+1G>A Pathogenic/Likely pathogenic ★★ same condition
- OCRL c.1714-1G>A Pathogenic ★★ same condition
- OCRL c.2256+1G>T Likely pathogenic ★★ same condition
- OCRL c.560+1G>C Pathogenic/Likely pathogenic ★★ same condition
- OCRL c.940-11G>A Pathogenic/Likely pathogenic ★★ same condition
- OCRL p.Ala861Thr Pathogenic/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/ocrl-p-ser642 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown