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NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe) AND Primary dilated cardiomyopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 16, 2014
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:
RCV000157093.1

Allele description [Variation Report for NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe)]

NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe)

Genes:
GJD2-DT:GJD2 divergent transcript [Gene - HGNC]
ACTC1:actin alpha cardiac muscle 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q14
Genomic location:
Preferred name:
NM_005159.5(ACTC1):c.602C>T (p.Ser201Phe)
HGVS:
  • NC_000015.10:g.34792422G>A
  • NG_007553.1:g.8305C>T
  • NM_005159.5:c.602C>TMANE SELECT
  • NP_005150.1:p.Ser201Phe
  • LRG_388t1:c.602C>T
  • LRG_388:g.8305C>T
  • NC_000015.9:g.35084623G>A
  • NM_005159.4:c.602C>T
Protein change:
S201F
Links:
dbSNP: rs730880038
NCBI 1000 Genomes Browser:
rs730880038
Molecular consequence:
  • NM_005159.5:c.602C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000206815Blueprint Genetics
no assertion criteria provided
Uncertain significance
(Jul 16, 2014) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000206815.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 6, 2024