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NM_007271.4(STK38):c.222dup (p.Glu75fs) AND Primary dilated cardiomyopathy

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:
RCV000850355.1

Allele description [Variation Report for NM_007271.4(STK38):c.222dup (p.Glu75fs)]

NM_007271.4(STK38):c.222dup (p.Glu75fs)

Gene:
STK38:serine/threonine kinase 38 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_007271.4(STK38):c.222dup (p.Glu75fs)
HGVS:
  • NC_000006.12:g.36524425dup
  • NM_001305102.2:c.222dup
  • NM_007271.4:c.222dupMANE SELECT
  • NP_001292031.1:p.Glu75fs
  • NP_009202.1:p.Glu75fs
  • NC_000006.11:g.36492202dup
Protein change:
E75fs
Links:
dbSNP: rs1582441467
NCBI 1000 Genomes Browser:
rs1582441467
Molecular consequence:
  • NM_001305102.2:c.222dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_007271.4:c.222dup - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000992531Institute of Human Genetics, University of Wuerzburg
no assertion criteria provided
Uncertain significanceunknownclinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV000992531.1

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

Last Updated: Apr 6, 2024