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NM_004990.4(MARS1):c.477C>T (p.Pro159=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 22, 2020
Accession:
VCV000475426.7
Variation ID:
475426
Description:
single nucleotide variant
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NM_004990.4(MARS1):c.477C>T (p.Pro159=)

Allele ID
463237
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q13.3
Genomic location
12: 57489958 (GRCh38) GRCh38 UCSC
12: 57883741 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.57883741C>T
NC_000012.12:g.57489958C>T
NG_023205.2:g.3857G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:57489957:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00639 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00231
Exome Aggregation Consortium (ExAC) 0.00239
1000 Genomes Project 0.00639
Trans-Omics for Precision Medicine (TOPMed) 0.00128
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00083
The Genome Aggregation Database (gnomAD) 0.00127
Links
ClinGen: CA6650183
dbSNP: rs117101415
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Apr 25, 2018 RCV000756322.5
Benign 1 criteria provided, single submitter Nov 22, 2020 RCV001086599.2
Benign 1 criteria provided, single submitter - RCV001174283.1
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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
(Apr 25, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000884093.1
Submitted: (Oct 10, 2018)
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: SCV001337413.1
Submitted: (Apr 07, 2020)
Evidence details
Benign
(Nov 22, 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: SCV000655641.5
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 rs117101415...

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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