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NM_002047.4(GARS1):c.1614-4G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 6, 2020
Accession:
VCV000386355.5
Variation ID:
386355
Description:
single nucleotide variant
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NM_002047.4(GARS1):c.1614-4G>A

Allele ID
369717
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p14.3
Genomic location
7: 30665846 (GRCh37) GRCh37 UCSC
7: 30626230 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.30665846G>A
NC_000007.14:g.30626230G>A
NM_002047.4:c.1614-4G>A MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:30626229:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00040 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00077
1000 Genomes Project 0.00040
Trans-Omics for Precision Medicine (TOPMed) 0.00092
Links
ClinGen: CA4206020
dbSNP: rs376324026
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Mar 2, 2017 RCV000422839.1
Benign 1 criteria provided, single submitter Jan 15, 2019 RCV000862776.3
Benign 1 criteria provided, single submitter Nov 6, 2020 RCV001089217.2
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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 02, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000527956.4
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
(Jan 15, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV001143986.1
Submitted: (Sep 25, 2019)
Evidence details
Benign
(Nov 06, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, type 2
Allele origin: germline
Invitae
Accession: SCV001003327.3
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 rs376324026...

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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 14, 2021