PMS2 p.Val230Asp
c.689_690delinsAT · rs2536304525 · VCV1721925
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Hereditary nonpolyposis colorectal neoplasms
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.37 | phastCons 0.99 |
| Regional constraint | o/e 1.09 | unconstrained · MANE · 22 kb · p 0.015 · regional, not allelic |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- PMS2
- Protein
- p.Val230Asp
- Coding
- c.689_690delinsAT
- MANE Select
- NM_000535
- dbSNP
- rs2536304525
- Type
- Indel
- Location
- chr7:5999123 (GRCh38)
- Gene constraint
- LOEUF 0.898 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 71.37 · 9 PDB
- Residue 230
- an α-helix
Similar variants
- PMS2 p.Val230Leu Uncertain significance ★★ ⚠ same residue
- PMS2 p.Val230= Benign/Likely benign ★★ same residue
- PMS2 p.Val230Glu Uncertain significance ★ ⚠ same residue
- PMS2 p.His839fs Pathogenic ★★ same condition
- PMS2 p.Lys130delinsCysAsnSerSerProLysCysLeuTer Pathogenic ★★ same condition
- PMS2 p.Asn204Asp Uncertain significance ★★ same condition
- PMS2 p.Glu411Leu Uncertain significance ★★ same condition
- PMS2 p.Leu822Val Uncertain significance ★★ 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-p-val230asp (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown