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NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr) AND Primary dilated cardiomyopathy

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Aug 3, 2020
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:
RCV003333907.1

Allele description [Variation Report for NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)]

NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)

Gene:
ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q42.13
Genomic location:
Preferred name:
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
HGVS:
  • NC_000001.11:g.229431831C>A
  • NG_006672.1:g.7266G>T
  • NG_093760.1:g.216C>A
  • NM_001100.4:c.880G>TMANE SELECT
  • NP_001091.1:p.Asp294Tyr
  • NP_001091.1:p.Asp294Tyr
  • LRG_429t1:c.880G>T
  • LRG_429:g.7266G>T
  • LRG_429p1:p.Asp294Tyr
  • NC_000001.10:g.229567578C>A
  • NM_001100.3:c.880G>T
Protein change:
D294Y
Molecular consequence:
  • NM_001100.4:c.880G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary dilated cardiomyopathy (DCM)
Synonyms:
Dilated Cardiomyopathy
Identifiers:
EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004041841Harry Perkins Institute Of Medical Research, University Of Western Australia
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Aug 3, 2020) 		unknownliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedliterature only

Citations

PubMed

Genetic variant burden and adverse outcomes in pediatric cardiomyopathy.

Burstein DS, Gaynor JW, Griffis H, Ritter A, Connor MJO, Rossano JW, Lin KY, Ahrens-Nicklas RC.

Pediatr Res. 2021 May;89(6):1470-1476. doi: 10.1038/s41390-020-1101-5. Epub 2020 Aug 3.

PubMed [citation]
PMID:
32746448
PMCID:
PMC8256333

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 Harry Perkins Institute Of Medical Research, University Of Western Australia, SCV004041841.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024