MSH2 c.367dupG
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
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 11 | GERP 2.7, phastCons 1 |
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
- MSH2
- Coding
- c.367dupG
- MANE Select
- NM_000251
- dbSNP
- rs1672654480
- Type
- Duplication
- Location
- chr2:47410092 (GRCh38)
- Gene constraint
- LOEUF 0.672 · pLI <0.01 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 85.60 · 30 PDB
Similar variants
- MSH2 p.Gln402fs Pathogenic ★★★ same condition
- MSH2 p.Glu12fs Pathogenic ★★★ same condition
- MSH2 p.Glu198fs Pathogenic ★★★ same condition
- MSH2 p.Gly195delinsGluGluThrArgThrValTer Pathogenic ★★★ same condition
- MSH2 p.Met779fs Pathogenic ★★★ same condition
- MSH2 p.Tyr563fs Pathogenic ★★★ same condition
- MSH2 c.2005+8dup Likely benign ★★★ same condition
- MSH2 p.Ala305fs 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/msh2-c-367dupg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown