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NM_004990.4(MARS1):c.2532G>A (p.Ala844=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 17, 2020
Accession:
VCV000380846.7
Variation ID:
380846
Description:
single nucleotide variant
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NM_004990.4(MARS1):c.2532G>A (p.Ala844=)

Allele ID
375382
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.3
Genomic location
12: 57516313 (GRCh38) GRCh38 UCSC
12: 57910096 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.57910096G>A
NC_000012.12:g.57516313G>A
NG_027674.1:g.9205C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:57516312:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.01018 (A)

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01015
1000 Genomes Project 0.01018
The Genome Aggregation Database (gnomAD), exomes 0.00262
The Genome Aggregation Database (gnomAD) 0.01060
Exome Aggregation Consortium (ExAC) 0.00325
Trans-Omics for Precision Medicine (TOPMed) 0.01089
Links
ClinGen: CA6650878
dbSNP: rs73344102
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 Jun 17, 2019 RCV000433326.3
Benign 1 criteria provided, single submitter Nov 17, 2020 RCV000524815.5
Benign 1 criteria provided, single submitter - RCV001174282.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Benign
(Mar 03, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519496.4
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
(Nov 17, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, axonal, type 2u
Interstitial lung and liver disease
Allele origin: germline
Invitae
Accession: SCV000655637.5
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001159611.1
Submitted: (Aug 05, 2019)
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: SCV001337412.1
Submitted: (Apr 07, 2020)
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 rs73344102...

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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 11, 2021