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VARIANT - TERM ANNOTATION REPORT

RGD ID: 9834584
Species: Homo sapiens
RGD Object: Variant
Symbol: CV179933
Name: NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
Acc ID: DOID:9007071
Term: Hereditary Neoplastic Syndromes
Definition: The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Definition Source(s): MESH:D009386
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
CV179933 IAGP 8554872ClinVarClinVar Annotator: match by term: Hereditary cancer-predisposing syndromePMID:17703316 PMID:18422726 PMID:23035301 PMID:25741868 PMID:25820570 PMID:25892863 PMID:26467025 PMID:28251689 PMID:28492532 PMID:28533537 PMID:29330641 PMID:30833417 PMID:32761968 PMID:36988593
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