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NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

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

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Sep 23, 2021)
Last evaluated:
Nov 26, 2020
Accession:
VCV000094816.8
Variation ID:
94816
Description:
single nucleotide variant
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NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser)

Allele ID
100716
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.2
Genomic location
X: 31478276 (GRCh38) GRCh38 UCSC
X: 31496393 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_199:g.1866334G>T
LRG_199t1:c.8767G>T LRG_199p1:p.Ala2923Ser
NM_004006.2:c.8767G>T NP_003997.1:p.Ala2923Ser missense
... more HGVS
Protein change
A1579S, A1582S, A194S, A2915S, A463S, A2800S, A2919S
Other names
-
Canonical SPDI
NC_000023.11:31478275:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00079 (A)

Allele frequency
1000 Genomes Project 0.00079
Trans-Omics for Precision Medicine (TOPMed) 0.00069
The Genome Aggregation Database (gnomAD) 0.00032
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00076
Links
ClinGen: CA222518
dbSNP: rs116283249
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 Oct 19, 2017 RCV000617868.1
Likely benign 1 criteria provided, single submitter Nov 26, 2020 RCV001087138.2
Uncertain significance 1 criteria provided, single submitter Jan 12, 2018 RCV001167231.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 26, 2020 RCV000723438.4
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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
4833 5050

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jun 01, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000112715.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Dilated cardiomyopathy 3B
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001329701.1
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)
Likely benign
(Oct 19, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736937.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Does not segregate in family study ;In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Likely benign
(Nov 26, 2020)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: germline
Invitae
Accession: SCV000751574.4
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000532649.5
Submitted: (Sep 23, 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 rs116283249...

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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 20, 2021