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NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 13, 2016)
Last evaluated:
Oct 15, 2015
Accession:
VCV000219135.1
Variation ID:
219135
Description:
single nucleotide variant
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NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met)

Allele ID
216941
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
11q14.1
Genomic location
11: 78726217 (GRCh38) GRCh38 UCSC
11: 78437262 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000011.10:g.78726217C>T
NC_000011.9:g.78437262C>T
NM_001098816.3:c.3412G>A NP_001092286.2:p.Val1138Met missense
... more HGVS
Protein change
V1138M
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00047
The Genome Aggregation Database (gnomAD), exomes 0.00044
1000 Genomes Project 0.00060
The Genome Aggregation Database (gnomAD) 0.00013
Links
UniProtKB: Q6N022#VAR_076521
OMIM: 610084.0003
dbSNP: rs538881762
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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 Oct 15, 2015 RCV000203554.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TENM4 - - GRCh38
GRCh37
11 20

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Oct 15, 2015)
no assertion criteria provided
Method: literature only
TREMOR, HEREDITARY ESSENTIAL, 5
Allele origin: germline
OMIM
Accession: SCV000258617.1
Submitted: (Jan 13, 2016)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor. Hor H Human molecular genetics 2015 PMID: 26188006

Record last updated Aug 25, 2019