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NM_001005361.3(DNM2):c.236-8C>G

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000256867.8
Variation ID:
256867
Description:
single nucleotide variant
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NM_001005361.3(DNM2):c.236-8C>G

Allele ID
256745
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 10772471 (GRCh38) GRCh38 UCSC
19: 10883147 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_238:g.59393C>G
LRG_238t1:c.236-8C>G
NM_001005360.2:c.236-8C>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:10772470:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00160 (G)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00340
The Genome Aggregation Database (gnomAD), exomes 0.00077
Exome Aggregation Consortium (ExAC) 0.00085
1000 Genomes Project 0.00160
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00277
The Genome Aggregation Database (gnomAD) 0.00331
Links
ClinGen: CA9200746
dbSNP: rs143084059
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Oct 31, 2016 RCV000249003.3
Benign 2 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV001085750.3
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000351646.2
Likely benign 1 criteria provided, single submitter Jan 2, 2017 RCV000423254.4
Benign 1 criteria provided, single submitter Jan 9, 2020 RCV001284975.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DNM2 - - GRCh38
GRCh37
649 675

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000305629.1
Submitted: (Apr 28, 2016)
Evidence details
Likely Benign
(Jan 02, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000510959.1
Submitted: (Feb 17, 2017)
Evidence details
Comment:
Converted during submission to Likely benign.
Benign
(Oct 31, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Athena Diagnostics Inc
Accession: SCV000613153.1
Submitted: (Aug 17, 2017)
Evidence details
Benign
(Apr 16, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512822.4
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Myopathy, centronuclear, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000410338.3
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 12, 2018)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000410337.3
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
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate B
Allele origin: germline
Invitae
Accession: SCV000563206.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jan 09, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001471077.1
Submitted: (Dec 11, 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 rs143084059...

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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