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NM_004006.3(DMD):c.932A>G (p.Asp311Gly) AND Cardiovascular phenotype

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 27, 2023
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:
RCV003165401.2

Allele description [Variation Report for NM_004006.3(DMD):c.932A>G (p.Asp311Gly)]

NM_004006.3(DMD):c.932A>G (p.Asp311Gly)

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.932A>G (p.Asp311Gly)
Other names:
p.D311G:GAC>GGC
HGVS:
  • NC_000023.11:g.32697898T>C
  • NG_012232.1:g.646712A>G
  • NM_000109.4:c.908A>G
  • NM_004006.3:c.932A>GMANE SELECT
  • NM_004009.3:c.920A>G
  • NM_004010.3:c.563A>G
  • NP_000100.3:p.Asp303Gly
  • NP_003997.1:p.Asp311Gly
  • NP_003997.2:p.Asp311Gly
  • NP_004000.1:p.Asp307Gly
  • NP_004001.1:p.Asp188Gly
  • LRG_199t1:c.932A>G
  • LRG_199:g.646712A>G
  • LRG_199p1:p.Asp311Gly
  • NC_000023.10:g.32716015T>C
  • NM_004006.2:c.932A>G
Protein change:
D188G
Links:
dbSNP: rs760932600
NCBI 1000 Genomes Browser:
rs760932600
Molecular consequence:
  • NM_000109.4:c.908A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004006.3:c.932A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004009.3:c.920A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004010.3:c.563A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003853660Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jan 27, 2023) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Chakravorty S, Nallamilli BRR, Khadilkar SV, Singla MB, Bhutada A, Dastur R, Gaitonde PS, Rufibach LE, Gloster L, Hegde M.

Front Neurol. 2020;11:559327. doi: 10.3389/fneur.2020.559327.

PubMed [citation]
PMID:
33250842
PMCID:
PMC7674836

Details of each submission

From Ambry Genetics, SCV003853660.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This alteration is classified as 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: Feb 25, 2025