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NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) AND Cardiovascular phenotype

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 25, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000619753.3

Allele description [Variation Report for NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)]

NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp)
Other names:
p.E577D:GAA>GAT
HGVS:
  • NC_000023.11:g.32573611T>A
  • NG_012232.1:g.770999A>T
  • NM_000109.4:c.1707A>T
  • NM_004006.3:c.1731A>TMANE SELECT
  • NM_004009.3:c.1719A>T
  • NM_004010.3:c.1362A>T
  • NP_000100.3:p.Glu569Asp
  • NP_003997.1:p.Glu577Asp
  • NP_003997.2:p.Glu577Asp
  • NP_004000.1:p.Glu573Asp
  • NP_004001.1:p.Glu454Asp
  • LRG_199t1:c.1731A>T
  • LRG_199:g.770999A>T
  • LRG_199p1:p.Glu577Asp
  • NC_000023.10:g.32591728T>A
  • NM_004006.2:c.1731A>T
Protein change:
E454D
Links:
dbSNP: rs150199251
NCBI 1000 Genomes Browser:
rs150199251
Molecular consequence:
  • NM_000109.4:c.1707A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.1731A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.1719A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.1362A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000736194Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely benign
(Jul 25, 2018) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Ambry Genetics, SCV000736194.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025