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NM_006567.5(FARS2):c.506A>T (p.Asp169Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 2, 2020
Accession:
VCV000214338.5
Variation ID:
214338
Description:
single nucleotide variant
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NM_006567.5(FARS2):c.506A>T (p.Asp169Val)

Allele ID
211252
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 5369076 (GRCh38) GRCh38 UCSC
6: 5369309 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.12:g.5369076A>T
NC_000006.11:g.5369309A>T
NM_006567.5:c.506A>T MANE Select NP_006558.1:p.Asp169Val missense
... more HGVS
Protein change
D169V
Other names
p.D169V:GAT>GTT
Canonical SPDI
NC_000006.12:5369075:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (T)

Allele frequency
1000 Genomes Project 0.00060
Trans-Omics for Precision Medicine (TOPMed) 0.00131
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00161
The Genome Aggregation Database (gnomAD) 0.00134
Links
ClinGen: CA324892
dbSNP: rs146356199
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 Oct 19, 2015 RCV000200335.4
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Dec 2, 2020 RCV000557427.5
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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
273 340

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(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: SCV000845681.1
Submitted: (Jun 13, 2018)
Evidence details
Likely benign
(Dec 02, 2020)
criteria provided, single submitter
Method: clinical testing
Combined oxidative phosphorylation deficiency 14
Allele origin: germline
Invitae
Accession: SCV000652846.4
Submitted: (Jan 07, 2021)
Evidence details
Uncertain significance
(Oct 19, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000251378.14
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Asp169Val (GAT>GTT): c.506 A>T in exon 2 of the FARS2 gene (NM_006567.3). The D169V variant has not been published as a mutation, nor has it … (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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs146356199...

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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 06, 2021