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NM_002047.3(GARS):c.-225G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Feb 20, 2020)
Last evaluated:
Jun 16, 2018
Accession:
VCV000359992.3
Variation ID:
359992
Description:
single nucleotide variant
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NM_002047.3(GARS):c.-225G>A

Allele ID
302780
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.3
Genomic location
7: 30594697 (GRCh38) GRCh38 UCSC
7: 30634313 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_243:g.5133G>A
LRG_243t1:c.-225G>A
NC_000007.13:g.30634313G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:30594696:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00379 (A)

Allele frequency
1000 Genomes Project 0.00379
Trans-Omics for Precision Medicine (TOPMed) 0.00592
Trans-Omics for Precision Medicine (TOPMed) 0.00626
The Genome Aggregation Database (gnomAD) 0.00708
The Genome Aggregation Database (gnomAD) 0.00641
Links
ClinGen: CA10623829
dbSNP: rs148593022
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000276196.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000326537.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000362552.2
Likely benign 1 criteria provided, single submitter Jun 16, 2018 RCV000835078.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GARS1 - - GRCh38
GRCh37
450 478

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 16, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000976859.1
Submitted: (Apr 12, 2019)
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
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Distal hereditary motor neuronopathy type 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468594.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease type 2D
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468595.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Distal Spinal Muscular Atrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468593.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (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 rs148593022...

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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 Dec 04, 2021