Diffuse midline glioma, H3 K27-altered: genes and variants
Diffuse midline glioma, H3 K27-altered is linked to 1 analyzed protein (MUTYH). 2 DNA variants are known to cause it; 10 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Diffuse midline glioma, H3 K27-altered
MUTYH: Adenine DNA glycosylase
It removes adenines incorrectly paired with oxidized guanine, preventing characteristic G:C-to-T:A mutations during base-excision repair. Biallelic loss-of-function variants cause MUTYH-associated polyposis and substantially increase colorectal-cancer risk.
2 disease-causing and 0 uncertain variants in MUTYH are linked to Diffuse midline glioma, H3 K27-altered.
Weakly linked (only a few uncertain records): MSH3, NBN, BRAF, CHEK2, IDH1, MEN1, PALB2 and SMARCA4.
Known disease-causing variants in Diffuse midline glioma, H3 K27-altered
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| MUTYH R242H | 242 | Disease-causing (★★) | |
| MUTYH G393D | 393 | Nudix hydrolase | Disease-causing (★★) |
Same protein, different disease
- Familial adenomatous polyposis is also caused by MUTYH variants; they fall mostly in different places as the Diffuse midline glioma, H3 K27-altered variants (27 disease-causing).
- Gastric cancer is also caused by MUTYH variants; they fall mostly in different places as the Diffuse midline glioma, H3 K27-altered variants (11 disease-causing).
Diseases related to Diffuse midline glioma, H3 K27-altered
- Familial adenomatous polyposis, also linked to MUTYH
- Colorectal cancer, also linked to MUTYH
- Gastric cancer, also linked to MUTYH
- Pilomatrixoma, also linked to MUTYH
- Neoplasm of stomach, also linked to MUTYH
- Inherited polyposis and early onset colorectal cancer - germline testing, also linked to MUTYH
- Familial colorectal cancer, also linked to MUTYH
- Classic or attenuated familial adenomatous polyposis, also linked to MUTYH
- Dysembryoplastic neuroepithelial tumor, also linked to MUTYH
Frequently asked questions
Which genes are linked to Diffuse midline glioma, H3 K27-altered?
In CATVariant, Diffuse midline glioma, H3 K27-altered is linked to 1 analyzed protein: MUTYH (Adenine DNA glycosylase).
How many genetic variants are linked to Diffuse midline glioma, H3 K27-altered?
12 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Diffuse midline glioma, H3 K27-altered look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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