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NM_004006.3(DMD):c.8076A>G (p.Gln2692=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Sep 24, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000197981.7
Variation ID:
197981
Description:
single nucleotide variant
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NM_004006.3(DMD):c.8076A>G (p.Gln2692=)

Allele ID
195142
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.1
Genomic location
X: 31627814 (GRCh38) GRCh38 UCSC
X: 31645931 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.31645931T>C
NC_000023.11:g.31627814T>C
NG_012232.1:g.1716796A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:31627813:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00007
Exome Aggregation Consortium (ExAC) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00024
The Genome Aggregation Database (gnomAD) 0.00027
Trans-Omics for Precision Medicine (TOPMed) 0.00027
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00009
The Genome Aggregation Database (gnomAD) 0.00025
Links
ClinGen: CA246413
dbSNP: rs144518527
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 Aug 30, 2016 RCV000619660.1
Likely benign 1 criteria provided, single submitter Nov 25, 2020 RCV001085311.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 11, 2020 RCV000724640.4
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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
5376 5598

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 19, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000231369.5
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Aug 30, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736666.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV001016011.3
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 11, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000728548.1
Submitted: (Sep 24, 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 rs144518527...

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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 Dec 04, 2021