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.4980G>A (p.Trp1660Ter)

Help
Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Oct 30, 2020)
Last evaluated:
May 28, 2019
Accession:
VCV000803866.2
Variation ID:
803866
Description:
single nucleotide variant
Help

NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)

Allele ID
792336
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
Xp21.1
Genomic location
X: 32365065 (GRCh38) GRCh38 UCSC
X: 32383182 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.11:g.32365065C>T
NC_000023.10:g.32383182C>T
NM_004006.3:c.4980G>A MANE Select NP_003997.2:p.Trp1660Ter nonsense
... more HGVS
Protein change
W1537*, W1656*, W319*, W1660*, W1652*, W316*
Other names
-
Canonical SPDI
NC_000023.11:32365064:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1603631752
Varsome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter May 28, 2019 RCV000990653.1
Likely pathogenic 1 no assertion criteria provided Mar 1, 2019 RCV001263946.1
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
- 5020

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Duchenne muscular dystrophy
Allele origin: unknown
Mendelics
Accession: SCV001141672.1
Submitted: (Oct 22, 2019)
Evidence details
Likely pathogenic
(Mar 01, 2019)
no assertion criteria provided
Method: clinical testing
Duchenne muscular dystrophy
Becker muscular dystrophy
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001442044.1
Submitted: (Oct 30, 2020)
Comment:
NM_004006.2(DMD):c.4980G>A(W1660*) is expected to be pathogenic in the context of dystrophinopathy (including Duchenne/Becker muscular dystrophy). This variant is predicted to lead to an abnormal or … (more)
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
There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1603631752...

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 Jun 14, 2021