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NM_004006.3(DMD):c.3433-1G>A AND Elevated circulating creatine kinase concentration

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 16, 2022
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:
RCV002471157.8

Allele description [Variation Report for NM_004006.3(DMD):c.3433-1G>A]

NM_004006.3(DMD):c.3433-1G>A

Gene:
DMD:dystrophin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp21.1
Genomic location:
Preferred name:
NM_004006.3(DMD):c.3433-1G>A
HGVS:
  • NC_000023.11:g.32454833C>T
  • NG_012232.1:g.889777G>A
  • NM_000109.4:c.3409-1G>A
  • NM_004006.3:c.3433-1G>AMANE SELECT
  • NM_004009.3:c.3421-1G>A
  • NM_004010.3:c.3064-1G>A
  • LRG_199t1:c.3433-1G>A
  • LRG_199:g.889777G>A
  • NC_000023.10:g.32472950C>T
  • NM_004006.2:c.3433-1G>A
Links:
dbSNP: rs398123939
NCBI 1000 Genomes Browser:
rs398123939
Molecular consequence:
  • NM_000109.4:c.3409-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004006.3:c.3433-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004009.3:c.3421-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_004010.3:c.3064-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Elevated circulating creatine kinase concentration
Synonyms:
HYPERCKEMIA, IDIOPATHIC; Elevated serum creatine phosphokinase; CAV3-Related Isolated HyperCKemia
Identifiers:
MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002769668Laboratory of Medical Genetics, National & Kapodistrian University of Athens
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 16, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV002769668.1

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

Description

PVS1, PM2, PP5

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

Last Updated: Nov 24, 2024