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NM_022173.4(TIA1):c.880G>A (p.Val294Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 29, 2018)
Last evaluated:
Apr 27, 2018
Accession:
VCV000575375.1
Variation ID:
575375
Description:
single nucleotide variant
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NM_022173.4(TIA1):c.880G>A (p.Val294Met)

Allele ID
560898
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p13.3
Genomic location
2: 70215379 (GRCh38) GRCh38 UCSC
2: 70442511 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_029967.1:g.38269G>A
NC_000002.11:g.70442511C>T
NC_000002.12:g.70215379C>T
... more HGVS
Protein change
V294M, V154M, V193M, V218M, V257M, V248M, V283M, V285M, V246M
Other names
-
Canonical SPDI
NC_000002.12:70215378:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
Trans-Omics for Precision Medicine (TOPMed) 0.00011
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
Links
dbSNP: rs144296151
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 27, 2018 RCV000697567.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TIA1 - - GRCh38
GRCh37
115 125

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 27, 2018)
criteria provided, single submitter
Method: clinical testing
Welander distal myopathy
Allele origin: germline
Invitae
Accession: SCV000826186.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces valine with methionine at codon 294 of the TIA1 protein (p.Val294Met). The valine residue is moderately conserved and there is a … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Clinical and neuropathological features of ALS/FTD with TIA1 mutations. Hirsch-Reinshagen V Acta neuropathologica communications 2017 PMID: 29216908
TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics. Mackenzie IR Neuron 2017 PMID: 28817800
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs144296151...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 27, 2020