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NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Aug 20, 2019)
Last evaluated:
Aug 20, 2019
Accession:
VCV000689397.1
Variation ID:
689397
Description:
single nucleotide variant
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NM_152295.5(TARS1):c.1912C>T (p.Arg638Ter)

Allele ID
676989
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5p13.3
Genomic location
5: 33466874 (GRCh38) GRCh38 UCSC
5: 33466979 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_152295.4:c.1912C>T NP_689508.3:p.Arg638Ter nonsense
NC_000005.10:g.33466874C>T
NC_000005.9:g.33466979C>T
... more HGVS
Protein change
R638*, R671*
Other names
-
Canonical SPDI
NC_000005.10:33466873:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Exome Aggregation Consortium (ExAC) 0.00001
Links
OMIM: 187790.0001
dbSNP: rs749888012
VarSome
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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 Aug 20, 2019 RCV000850111.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TARS1 - - GRCh38
GRCh37
9 37

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 20, 2019)
no assertion criteria provided
Method: literature only
TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE
Allele origin: germline
OMIM
Accession: SCV000992275.1
Submitted: (Aug 20, 2019)
Evidence details
Publications
PubMed (1)

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
Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. Theil AF American journal of human genetics 2019 PMID: 31374204

Text-mined citations for rs749888012...

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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 Oct 24, 2021