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NM_004006.2(DMD):c.7323T>C (p.Thr2441=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 26, 2021)
Last evaluated:
May 5, 2021
Accession:
VCV000094764.6
Variation ID:
94764
Description:
single nucleotide variant
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NM_004006.2(DMD):c.7323T>C (p.Thr2441=)

Allele ID
100664
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.1
Genomic location
X: 31774179 (GRCh38) GRCh38 UCSC
X: 31792296 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_199t1:c.7323T>C LRG_199p1:p.Thr2441=
NC_000023.10:g.31792296A>G
NC_000023.11:g.31774179A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:31774178:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00010
The Genome Aggregation Database (gnomAD) 0.00018
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00019
Links
ClinGen: CA222490
dbSNP: rs201919981
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jul 18, 2019 RCV000080757.8
Likely benign 1 criteria provided, single submitter Dec 4, 2020 RCV001088599.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 5, 2021 RCV000723546.4
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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
4801 5018

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 17, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000112659.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(May 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000718679.2
Submitted: (Sep 26, 2021)
Evidence details
Likely benign
(Jul 18, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV001433474.1
Submitted: (Jul 24, 2020)
Evidence details
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV000751584.4
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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Title Author Journal Year Link
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=DMD - - - -

Text-mined citations for rs201919981...

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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 02, 2021