A statement about the frequency at which missense variants in a particular region are tolerated (i.e. do not cause a pathological condition)

Descended from Statement

Scope and Usage


Name Type Cardinality Description IRI Defined in
region SequenceLocation 0..1 Sequence on which the region is defined SEPIO:0000279 BenignMissenseVariationRateStatement
gene @id 0..1 Gene that contains the missense variants SEPIO:0000278 BenignMissenseVariationRateStatement
statementOutcome @id 1..1 The rate at which Benign missense variants occur within the region SEPIO:0000197 BenignMissenseVariationRateStatement
label string 0..1 A name given to the resource. RDFS:label Entity
description string 0..1 Description may include but is not limited to: an abstract, a table of contents, a graphical representation, or a free-text account of the resource. DC:description Entity
userLabelDictionary UserLabel 0..* An optional label defined by the user. Used for custom entities or to clarify the preferred user label on existing entities with non-preferred labels. SEPIO:0000422 Statement
outcomeQualifier string 0..1 Use “NOT” as the value of this property to assert that the statement is negated. SEPIO:0000346 Statement
evidenceLine EvidenceLine 0..* supporting evidence SEPIO:0000006 Statement
contribution Contribution 0..* The contributions (agent, time and role) made to this entity SEPIO:0000159 Statement
source string 0..* A string indicating the source of a Statement DC:source Statement


ID label description userLabelDictionary outcomeQualifier evidenceLine region gene statementOutcome


In LMM data alone, we have over 150 benign missense variants in TTN.






Based on the gene size, ExAC expects 740 missense variants to be observed, but actually observes only 420, giving a z score of 6.5, which is in the top 0.02% of genes.






ClinVar shows no benign missense variants in (or near) this region. The closest is NM_000169.2:c.8T>C