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NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)

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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:
VCV000039825.1
Variation ID:
39825
Description:
single nucleotide variant
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NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)

Allele ID
48424
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 5545261 (GRCh38) GRCh38 UCSC
6: 5545494 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.5545494T>C
NC_000006.12:g.5545261T>C
NM_006567.5:c.986T>C MANE Select NP_006558.1:p.Ile329Thr missense
... more HGVS
Protein change
I329T
Other names
-
Canonical SPDI
NC_000006.12:5545260:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA130597
UniProtKB: O95363#VAR_069488
OMIM: 611592.0002
dbSNP: rs397514611
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 RCV000033045.4
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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
278 346

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: SCV000845715.1
Submitted: (Jun 13, 2018)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 15, 2012)
no assertion criteria provided
Method: literature only
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
Allele origin: germline
OMIM
Accession: SCV000056825.2
Submitted: (Dec 03, 2012)
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
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy. Elo JM Human molecular genetics 2012 PMID: 22833457

Text-mined citations for rs397514611...

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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