Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_004006.3(DMD):c.7571G>A (p.Arg2524His)

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
10 (Most recent: Oct 15, 2021)
Last evaluated:
Jun 19, 2021
Accession:
VCV000161219.13
Variation ID:
161219
Description:
single nucleotide variant
Help

NM_004006.3(DMD):c.7571G>A (p.Arg2524His)

Allele ID
171246
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.1
Genomic location
X: 31729720 (GRCh38) GRCh38 UCSC
X: 31747837 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.31747837C>T
NM_004006.2:c.7571G>A NP_003997.1:p.Arg2524His missense
NC_000023.11:g.31729720C>T
... more HGVS
Protein change
R2516H, R2524H, R1180H, R2520H, R2401H, R64H, R1183H
Other names
-
Canonical SPDI
NC_000023.11:31729719:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00106 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00107
The Genome Aggregation Database (gnomAD) 0.00109
Exome Aggregation Consortium (ExAC) 0.00036
1000 Genomes Project 0.00106
Trans-Omics for Precision Medicine (TOPMed) 0.00109
The Genome Aggregation Database (gnomAD), exomes 0.00032
The Genome Aggregation Database (gnomAD) 0.00096
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00170
Links
ClinGen: CA211402
dbSNP: rs151244052
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 25, 2017 RCV000434520.4
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Dec 4, 2020 RCV000990616.3
Benign 1 criteria provided, single submitter Mar 15, 2018 RCV000252404.2
Likely benign 1 criteria provided, single submitter - RCV001293115.1
Likely benign 3 criteria provided, single submitter Jun 19, 2021 RCV001704073.2
Likely benign 1 no assertion criteria provided Jun 1, 2014 RCV000148463.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Apr 25, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000603349.1
Submitted: (Jun 30, 2017)
Evidence details
Likely benign
(Mar 03, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000705594.2
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: unknown
Mendelics
Accession: SCV001141632.1
Submitted: (Oct 22, 2019)
Evidence details
Likely benign
(-)
criteria provided, single submitter
Method: research
Primary dilated cardiomyopathy
Allele origin: unknown
Genetics and Genomics Program,Sidra Medicine
Accession: SCV001434105.1
Submitted: (Aug 26, 2020)
Evidence details
Benign
(Mar 15, 2018)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319950.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;Other data supporting benign classification;Subpopulation frequency in … (more)
Likely benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV000560803.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000515978.4
Submitted: (Sep 24, 2021)
Evidence details
Comment:
This variant is associated with the following publications: (PMID: 24055113, 21515508, 25637381)
Likely benign
(Jun 01, 2014)
no assertion criteria provided
Method: research
Muscular dystrophy
(Autosomal dominant inheritance)
Allele origin: germline
CSER _CC_NCGL, University of Washington
Study: ESP 6500 variant annotation
Accession: SCV000190162.1
Submitted: (Aug 28, 2014)
Comment:
Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978709.1
Submitted: (Oct 15, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001980270.1
Submitted: (Oct 15, 2021)
Evidence details

Functional evidence

Help
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

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

Text-mined citations for rs151244052...

Help
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