PMS2 c.(?_-87
Pathogenic
Expert panel
Classification
Pathogenic
ClinVar
Review
Expert panel ★★★☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
Lynch syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. |
Variant & gene context
- Gene
- PMS2
- Coding
- c.(?_-87
- MANE Select
- NM_000535
- Type
- Deletion
- Gene constraint
- LOEUF 0.898 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 71.37 · 9 PDB
Disease context
Lynch syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Lynch syndrome (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Adult
Similar variants
- PMS2 c.1145-1350_*20545del Pathogenic ★★★ same condition
- PMS2 c.1145-?_2174+?del Pathogenic ★★★ same condition
- PMS2 c.2276-113_2445+1596del Pathogenic ★★★ same condition
- PMS2 c.2276-91_2445+790del Pathogenic ★★★ same condition
- PMS2 c.24-?_163+?del Pathogenic ★★★ same condition
- PMS2 c.354-?_803+?del Pathogenic ★★★ same condition
- PMS2 c.354-?_(*160_? Pathogenic ★★★ same condition
- PMS2 c.538-478_705+456del 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/pms2-c-minus-87 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown