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NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) AND Dilated cardiomyopathy 1AA

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000614448.1

Allele description [Variation Report for NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)]

NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)

Gene:
ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q43
Genomic location:
Preferred name:
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His)
HGVS:
  • NC_000001.11:g.236762503G>C
  • NG_009081.2:g.103363G>C
  • NM_001103.4:c.2569G>CMANE SELECT
  • NM_001278343.2:c.2569G>C
  • NM_001278344.2:c.1945G>C
  • NP_001094.1:p.Asp857His
  • NP_001094.1:p.Asp857His
  • NP_001265272.1:p.Asp857His
  • NP_001265273.1:p.Asp649His
  • LRG_436t1:c.2569G>C
  • LRG_436:g.103363G>C
  • LRG_436p1:p.Asp857His
  • NC_000001.10:g.236925803G>C
  • NG_009081.1:g.81034G>C
  • NM_001103.2:c.2569G>C
  • NM_001103.3:c.2569G>C
Protein change:
D649H
Links:
dbSNP: rs533267299
NCBI 1000 Genomes Browser:
rs533267299
Molecular consequence:
  • NM_001103.4:c.2569G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278343.2:c.2569G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001278344.2:c.1945G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Dilated cardiomyopathy 1AA (CMD1AA)
Synonyms:
CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION
Identifiers:
MONDO: MONDO:0012808; MedGen: C2677338; Orphanet: 154; OMIM: 612158

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000734012Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV000734012.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024