NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal) AND Primary dilated cardiomyopathy

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 31, 2015
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:: RCV000208262.1

Allele description [Variation Report for NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)]

NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)

Gene:

MYH7:myosin heavy chain 7 [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

14q11.2

Genomic location:

Preferred name:

NM_000257.4(MYH7):c.5741_5744delinsT (p.Glu1914_Ser1915delinsVal)

HGVS:

NC_000014.9:g.23413805_23413808delinsA
NG_007884.1:g.26854_26857delinsT
NM_000257.4:c.5741_5744delinsTMANE SELECT
NP_000248.2:p.Glu1914_Ser1915delinsVal
LRG_384t1:c.5741_5744delinsT
LRG_384:g.26854_26857delinsT
NC_000014.8:g.23883014_23883017delinsA
NM_000257.2:c.5741_5744delinsT

Links:

dbSNP: rs869025483

NCBI 1000 Genomes Browser:

rs869025483

Molecular consequence:

NM_000257.4:c.5741_5744delinsT - inframe_indel - [Sequence Ontology: SO:0001820]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000264104	Blueprint Genetics	criteria provided, single submitter (Variant Classification)	Likely pathogenic (Mar 31, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000264104

Blueprint Genetics

criteria provided, single submitter

(Variant Classification)

Likely pathogenic
(Mar 31, 2015)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Blueprint Genetics, SCV000264104.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Apr 6, 2024

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