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NM_006567.5(FARS2):c.462G>T (p.Ala154=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000380526.7
Variation ID:
380526
Description:
single nucleotide variant
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NM_006567.5(FARS2):c.462G>T (p.Ala154=)

Allele ID
368681
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
6p25.1
Genomic location
6: 5369032 (GRCh38) GRCh38 UCSC
6: 5369265 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000006.11:g.5369265G>T
NC_000006.12:g.5369032G>T
NM_006567.5:c.462G>T MANE Select NP_006558.1:p.Ala154= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000006.12:5369031:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (T)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
Trans-Omics for Precision Medicine (TOPMed) 0.00048
1000 Genomes Project 0.00100
The Genome Aggregation Database (gnomAD) 0.00035
Links
ClinGen: CA3623650
dbSNP: rs150477330
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Nov 23, 2020 RCV000714918.3
Likely benign 1 criteria provided, single submitter Jul 10, 2017 RCV000433710.2
Likely benign 1 criteria provided, single submitter Jul 1, 2020 RCV001200284.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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 benign
(Jul 10, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518700.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(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: SCV000845678.1
Submitted: (Jun 13, 2018)
Evidence details
Likely benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Combined oxidative phosphorylation deficiency 14
Allele origin: germline
Invitae
Accession: SCV001091694.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jul 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001371202.3
Submitted: (Jul 04, 2021)
Evidence details

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 rs150477330...

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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 10, 2021