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NM_002047.4(GARS1):c.747T>C (p.Tyr249=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000258538.7
Variation ID:
258538
Description:
single nucleotide variant
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NM_002047.4(GARS1):c.747T>C (p.Tyr249=)

Allele ID
252788
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.3
Genomic location
7: 30609596 (GRCh38) GRCh38 UCSC
7: 30649212 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_243:g.20032T>C
LRG_243t1:c.747T>C
NC_000007.13:g.30649212T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:30609595:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.01617 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.01465
1000 Genomes Project 0.01617
The Genome Aggregation Database (gnomAD), exomes 0.00397
Exome Aggregation Consortium (ExAC) 0.00500
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01563
Trans-Omics for Precision Medicine (TOPMed) 0.01664
Links
ClinGen: CA4205815
dbSNP: rs7808770
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Jan 28, 2016 RCV000247260.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000286418.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000406043.2
Benign 1 criteria provided, single submitter Sep 21, 2017 RCV000711745.4
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV000472548.8
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001095229.1
Benign 1 criteria provided, single submitter - RCV001173310.1
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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
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308680.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 28, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517414.4
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
(Sep 21, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000842137.1
Submitted: (Aug 31, 2018)
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: SCV000468647.3
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: SCV000468648.3
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: SCV000468649.3
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
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001336394.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV000561334.6
Submitted: (Jan 07, 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 rs7808770...

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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 Sep 29, 2021