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NM_004006.3(DMD):c.10087-20C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Dec 11, 2020)
Last evaluated:
Aug 17, 2020
Accession:
VCV000094423.5
Variation ID:
94423
Description:
single nucleotide variant
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NM_004006.3(DMD):c.10087-20C>T

Allele ID
100323
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.2
Genomic location
X: 31178825 (GRCh38) GRCh38 UCSC
X: 31196942 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.31196942G>A
NC_000023.11:g.31178825G>A
NG_012232.1:g.2165785C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:31178824:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00201
Trans-Omics for Precision Medicine (TOPMed) 0.00201
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00208
Exome Aggregation Consortium (ExAC) 0.00213
Trans-Omics for Precision Medicine (TOPMed) 0.00173
The Genome Aggregation Database (gnomAD), exomes 0.00194
The Genome Aggregation Database (gnomAD) 0.00198
Links
ClinGen: CA147803
dbSNP: rs41303187
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 Sep 24, 2015 RCV000080406.7
Likely benign 1 criteria provided, single submitter May 17, 2017 RCV000514610.2
Benign 1 criteria provided, single submitter Aug 17, 2020 RCV001282805.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DMD Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
5376 5598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 17, 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: SCV000610836.1
Submitted: (Oct 05, 2017)
Evidence details
Benign
(Aug 05, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000512812.4
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
(Sep 24, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000112308.7
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Aug 17, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001157898.2
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DMD - - - -

Text-mined citations for rs41303187...

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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