Variant · Snv
MUTYH NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
CI-VAR-00005469Explore in graph →p.Gly368AspNM_001048174.2:c.1103G>AClinVar 5294 rs36053993
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 5294 | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts | 2 | Familial adenomatous polyposis 2; Endometrial cancer; Carcinoma of colon; Hereditary cancer-predisposing syndrome; Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas; Neoplasm of stomach; Small intestine carcinoid; Pilomatrixoma; Ovarian carcinoma; Colon cancer; Breast carcinoma; Familial colorectal cancer; MUTYH-related disorder; Diffuse midline glioma, H3 K27-altered; Inherited polyposis and early onset colorectal cancer - germline testing; Gastric cancer; Pleomorphic xanthoastrocytoma BRAF mutant; Infant-type hemispheric glioma; Pilocytic astrocytoma; Ependymoma; Classic or attenuated familial adenomatous polyposis; Familial cancer of breast | germline | 83 | Jun 01, 2026 | clinvar |