NM_004281.4(BAG3):c.252_258dup (p.Pro87fs) AND Primary dilated cardiomyopathy

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 31, 2017
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:: RCV000678699.1

Allele description [Variation Report for NM_004281.4(BAG3):c.252_258dup (p.Pro87fs)]

NM_004281.4(BAG3):c.252_258dup (p.Pro87fs)

Gene:

BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q26.11

Genomic location:

Preferred name:

NM_004281.4(BAG3):c.252_258dup (p.Pro87fs)

HGVS:

NC_000010.11:g.119669922_119669928dup
NG_016125.1:g.23553_23559dup
NM_004281.4:c.252_258dupMANE SELECT
NP_004272.2:p.Pro87fs
NP_004272.2:p.Pro87fs
LRG_742t1:c.252_258dup
LRG_742:g.23553_23559dup
LRG_742p1:p.Pro87fs
NC_000010.10:g.121429434_121429440dup
NM_004281.3:c.252_258dup

Protein change:

P87fs

Links:

dbSNP: rs1564773559

NCBI 1000 Genomes Browser:

rs1564773559

Molecular consequence:

NM_004281.4:c.252_258dup - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804861	Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital	no assertion criteria provided	Pathogenic (Mar 31, 2017)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804861

Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

no assertion criteria provided

Pathogenic
(Mar 31, 2017)

germline

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital, SCV000804861.1

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

Last Updated: Apr 6, 2024

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