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NM_004990.4(MARS1):c.1753+7A>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 4, 2021)
Last evaluated:
May 5, 2020
Accession:
VCV000374666.14
Variation ID:
374666
Description:
single nucleotide variant
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NM_004990.4(MARS1):c.1753+7A>G

Allele ID
361552
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.3
Genomic location
12: 57512360 (GRCh38) GRCh38 UCSC
12: 57906143 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.57906143A>G
NC_000012.12:g.57512360A>G
NG_034077.1:g.29408A>G
NM_004990.4:c.1753+7A>G MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:57512359:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00452
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00523
The Genome Aggregation Database (gnomAD), exomes 0.00437
Exome Aggregation Consortium (ExAC) 0.00496
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD) 0.00408
The Genome Aggregation Database (gnomAD) 0.00435
Trans-Omics for Precision Medicine (TOPMed) 0.00431
Links
ClinGen: CA6650596
dbSNP: rs117914586
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 Nov 1, 2018 RCV000416119.6
Likely benign 1 criteria provided, single submitter Feb 16, 2018 RCV000433793.5
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV001082355.1
Benign 1 criteria provided, single submitter - RCV001174278.1
Benign 1 criteria provided, single submitter May 5, 2020 RCV001283350.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MARS1 - - GRCh38
GRCh37
240 271

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 16, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517933.4
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
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2u
Interstitial lung and liver disease
Allele origin: germline
Invitae
Accession: SCV000655626.4
Submitted: (Jan 29, 2020)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease
Allele origin: germline
Molecular Genetics Laboratory,London Health Sciences Centre
Accession: SCV001337408.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(May 05, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157001.2
Submitted: (Dec 11, 2020)
Evidence details
Likely benign
(Nov 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV000493526.13
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 rs117914586...

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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