Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	8615761
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV69567
Name:	NM_007294.4(BRCA1):c.3491G>T (p.Ser1164Ile)

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 Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
CV69567		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Hereditary cancer-predisposing syndrome	PMID:18680205 PMID:19493677 PMID:25741868 PMID:25896959 PMID:28492532 PMID:31911673

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