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NM_002047.4(GARS1):c.1420C>A (p.Arg474=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Oct 1, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000360013.12
Variation ID:
360013
Description:
single nucleotide variant
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NM_002047.4(GARS1):c.1420C>A (p.Arg474=)

Allele ID
306135
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.3
Genomic location
7: 30621453 (GRCh38) GRCh38 UCSC
7: 30661069 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_243:g.31889C>A
LRG_243t1:c.1420C>A
NC_000007.13:g.30661069C>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:30621452:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00037
Exome Aggregation Consortium (ExAC) 0.00051
1000 Genomes Project 0.00240
The Genome Aggregation Database (gnomAD) 0.00226
Trans-Omics for Precision Medicine (TOPMed) 0.00180
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00199
Trans-Omics for Precision Medicine (TOPMed) 0.00201
The Genome Aggregation Database (gnomAD) 0.00210
Links
ClinGen: CA4205974
dbSNP: rs113958280
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Aug 1, 2020 RCV001310960.3
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000293996.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000385710.2
Likely benign 1 criteria provided, single submitter Mar 11, 2019 RCV000431646.4
Benign 1 criteria provided, single submitter Nov 25, 2020 RCV000543260.7
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001095171.1
Likely benign 1 criteria provided, single submitter - RCV001172973.1
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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
449 477

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Mar 11, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157895.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Distal Spinal Muscular Atrophy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468685.3
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: SCV000468683.3
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 hereditary motor neuronopathy type 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000468684.3
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)
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336048.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000657688.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Feb 06, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000525905.5
Submitted: (Oct 01, 2021)
Evidence details
Likely benign
(Aug 01, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001500958.3
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 rs113958280...

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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 Nov 27, 2021