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NM_004006.3(DMD):c.932A>G (p.Asp311Gly) AND not provided

Germline classification:
Conflicting classifications of pathogenicity (2 submissions)
Last evaluated:
Jun 7, 2023
Review status:
criteria provided, conflicting classifications
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:
RCV000183405.6

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)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000235861GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 26, 2014) 		germlineclinical testing

Citation Link,

SCV004229588Athena Diagnostics
criteria provided, single submitter

(Athena Diagnostics Criteria)		Benign
(Jun 7, 2023) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot 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

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From GeneDx, SCV000235861.9

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

Description

p.Asp311Gly (GAC>GGC): c.932 A>G in exon 9 of the DMD gene (NM_004006.2). A variant of unknown significance has been identified in the DMD gene. To our knowledge, the D311G variant has not been published as a mutation or as a benign polymorphism. The D311G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D311G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved in mammals. In silico analysis predicts this variant is possibly damaging to the protein structure/function. However, no missense mutations in nearby residues have been reported in association with cardiomyopathy/DMD, suggesting this region of the protein may be tolerant to change. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in CARDIOMYOPATHY panel(s).

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

From Athena Diagnostics, SCV004229588.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 25, 2025