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NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jun 13, 2018)
Last evaluated:
Jun 13, 2018
Accession:
VCV000253158.1
Variation ID:
253158
Description:
single nucleotide variant
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NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)

Allele ID
247570
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 5545248 (GRCh38) GRCh38 UCSC
6: 5545481 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.5545481G>T
NC_000006.12:g.5545248G>T
NM_006567.5:c.973G>T MANE Select NP_006558.1:p.Asp325Tyr missense
... more HGVS
Protein change
D325Y
Other names
-
Canonical SPDI
NC_000006.12:5545247:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10586222
OMIM: 611592.0004
dbSNP: rs764427452
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 2 criteria provided, single submitter Jun 13, 2018 RCV000239485.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FARS2 - - GRCh38
GRCh37
286 354

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jun 13, 2018)
criteria provided, single submitter
Method: clinical testing
Combined oxidative phosphorylation deficiency 14
Allele origin: germline
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine
Accession: SCV000845714.1
Submitted: (Jun 13, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Jul 29, 2016)
no assertion criteria provided
Method: literature only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
Allele origin: germline
OMIM
Accession: SCV000297957.1
Submitted: (Jul 29, 2016)
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
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Almalki A Biochimica et biophysica acta 2014 PMID: 24161539

Text-mined citations for rs764427452...

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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 Jun 08, 2020