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NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 8, 2020
Accession:
VCV000129683.7
Variation ID:
129683
Description:
single nucleotide variant
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NM_006790.3(MYOT):c.149A>G (p.Gln50Arg)

Allele ID
135129
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q31.2
Genomic location
5: 137870800 (GRCh38) GRCh38 UCSC
5: 137206489 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.137206489A>G
NC_000005.10:g.137870800A>G
NC_000005.9:g.137206489A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:137870799:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.02776 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00612
Exome Aggregation Consortium (ExAC) 0.00772
Trans-Omics for Precision Medicine (TOPMed) 0.02473
1000 Genomes Project 0.02776
The Genome Aggregation Database (gnomAD) 0.02234
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.02568
Links
ClinGen: CA153837
dbSNP: rs34717730
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Mar 24, 2016 RCV000117697.9
Benign 3 criteria provided, multiple submitters, no conflicts Dec 8, 2020 RCV000576436.4
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV000309620.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000345696.2
Benign 1 criteria provided, single submitter Jun 23, 2020 RCV001285011.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MYOT - - GRCh38
GRCh37
- 246
PKD2L2-DT - - - GRCh38 - 233

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 16, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000203054.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000311588.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Limb-Girdle Muscular Dystrophy, Dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000452980.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Jun 01, 2017)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy 3
Myofibrillar myopathy 3
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000677364.1
Submitted: (Jul 17, 2017)
Evidence details
Benign
(Mar 24, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000523835.4
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 13, 2018)
criteria provided, single submitter
Method: clinical testing
Spheroid body myopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000452979.3
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
Myofibrillar myopathy 3
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000452981.3
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
(Jun 23, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001471126.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Dec 08, 2020)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy 3
Allele origin: germline
Invitae
Accession: SCV000638811.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000151944.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=MYOT - - - -

Text-mined citations for rs34717730...

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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 Oct 24, 2021