MORC2 p.Arg535=
c.1605G>A · VCV4947411
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.18 | GERP -2.9, phastCons 0.28 |
| Overall | ||
| CADD | 10.27 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- MORC2
- Protein
- p.Arg535=
- Coding
- c.1605G>A
- MANE Select
- NM_001303256
- Type
- single nucleotide variant
- Location
- chr22:30936643 (GRCh38)
- Gene constraint
- LOEUF 0.3 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.37 · 9 PDB
- Residue 535
- a β-strand; the 'disordered' region
Similar variants
- MORC2 p.Arg535Gln Uncertain significance ★★ ⚠ same residue
- MORC2 p.Arg535Trp Uncertain significance ★★ ⚠ same residue
- MORC2 p.Arg132Cys Pathogenic/Likely pathogenic ★★ same type
- MORC2 p.Arg132His Pathogenic/Likely pathogenic ★★ ⚠ same type
- MORC2 p.Arg252Trp Pathogenic/Likely pathogenic ★★ same type
- MORC2 p.Arg266Ser Pathogenic/Likely pathogenic ★★ same type
- MORC2 p.Asp466Asn Pathogenic/Likely pathogenic ★★ ⚠ same type
- MORC2 p.Glu236Gly 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/morc2-p-arg535 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown