MSH6 p.Arg385Pro
c.1153_1154delinsCC · VCV4657437
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Conditions
1
hereditary neoplastic syndrome
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 0.38 | GERP 0.18, phastCons 0.99 |
| Regional constraint | o/e 1.31 | unconstrained · MANE · 24 kb · p 9.6e-36 · regional, not allelic |
Variant & gene context
- Gene
- MSH6
- Protein
- p.Arg385Pro
- Coding
- c.1153_1154delinsCC
- MANE Select
- NM_000179
- Type
- Indel
- Location
- chr2:47799136 (GRCh38)
- Gene constraint
- LOEUF 0.841 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 77.93 · 8 PDB
Similar variants
- MSH6 p.Arg385Lys Uncertain significance ★★ ⚠ same residue
- MSH6 p.Arg385= Benign/Likely benign ★★ same residue
- MSH6 p.Arg385del Conflicting classifications of pathogenicity ★ same residue
- MSH6 p.Arg385Ser Uncertain significance ★ same residue
- MSH6 p.Arg385Thr Uncertain significance ★ ⚠ same residue
- MSH6 c.3802-15_3802delinsAAGCTAATAGCA Likely pathogenic ★★ same condition
- MSH6 p.Arg385fs Pathogenic ★★ same residue
- MSH6 p.Asp390fs 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/msh6-p-arg385pro (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown