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TBR1, LYS228GLU

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 19, 2018)
Last evaluated:
Dec 19, 2018
Accession:
VCV000599050.1
Variation ID:
599050
Description:
single nucleotide variant
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TBR1, LYS228GLU

Allele ID
590227
Variant type
single nucleotide variant
Variant length
-
Cytogenetic location
2q24.2
Genomic location
-
HGVS
-
Protein change
K228E
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 604616.0003
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Dec 19, 2018 RCV000735641.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TBR1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
41 58

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 19, 2018)
no assertion criteria provided
Method: literature only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISM AND SPEECH DELAY
Allele origin: germline
OMIM
Accession: SCV000863778.1
Submitted: (Dec 19, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
De novo TBR1 mutations in sporadic autism disrupt protein functions. Deriziotis P Nature communications 2014 PMID: 25232744

Record last updated Jun 17, 2019