NM_001015048.3(BAG5):c.321_322del (p.Lys108fs) AND Cardiomyopathy

Germline classification:: Likely pathogenic (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:: RCV003224082.1

Allele description [Variation Report for NM_001015048.3(BAG5):c.321_322del (p.Lys108fs)]

NM_001015048.3(BAG5):c.321_322del (p.Lys108fs)

Gene:

BAG5:BAG cochaperone 5 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

14q32.33

Genomic location:

Preferred name:

NM_001015048.3(BAG5):c.321_322del (p.Lys108fs)

HGVS:

NC_000014.9:g.103560843TC[3]
NG_041786.1:g.2887TC[3]
NM_001015048.3:c.321_322delMANE SELECT
NM_001015049.5:c.321_322del
NM_004873.4:c.321_322del
NP_001015048.1:p.Lys108fs
NP_001015049.2:p.Lys108fs
NP_004864.1:p.Lys108fs
NC_000014.8:g.104027180TC[3]
NM_001015049.2:c.444_445delGA

Protein change:

K108fs

Molecular consequence:

NM_001015048.3:c.321_322del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001015049.5:c.321_322del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_004873.4:c.321_322del - frameshift variant - [Sequence Ontology: SO:0001589]

Functional consequence:

protein loss of function [Variation Ontology: 0043]

Observations:

Condition(s)

Name:: Cardiomyopathy (CMYO)
Synonyms:: Cardiomyopathies
Identifiers:: MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003918808	Center of Excellence for Medical Genomics, Chulalongkorn University	no assertion criteria provided	Likely pathogenic	inherited, not applicable	clinical testing, in vivo	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003918808

Center of Excellence for Medical Genomics, Chulalongkorn University

no assertion criteria provided

Likely pathogenic

inherited, not applicable

clinical testing, in vivo

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	inherited	yes	3	not provided	not provided	not provided	not provided	clinical testing
not provided	inherited	no	3	not provided	not provided	not provided	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vivo

Citations

PubMed

Loss-of-function mutations in the co-chaperone protein BAG5 cause dilated cardiomyopathy requiring heart transplantation.

Hakui H, Kioka H, Miyashita Y, Nishimura S, Matsuoka K, Kato H, Tsukamoto O, Kuramoto Y, Takuwa A, Takahashi Y, Saito S, Ohta K, Asanuma H, Fu HY, Shinomiya H, Yamada N, Ohtani T, Sawa Y, Kitakaze M, Takashima S, Sakata Y, Asano Y.

Sci Transl Med. 2022 Jan 19;14(628):eabf3274. doi: 10.1126/scitranslmed.abf3274. Epub 2022 Jan 19.

PubMed [citation]

PMID:: 35044787

Details of each submission

From Center of Excellence for Medical Genomics, Chulalongkorn University, SCV003918808.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	not provided	not provided	clinical testing	PubMed (1)
2		1	not provided	not provided	clinical testing	PubMed (1)
3		1	not provided	not provided	clinical testing	PubMed (1)
4		1	not provided	not provided	clinical testing	PubMed (1)
5		1	not provided	not provided	clinical testing	PubMed (1)
6		1	not provided	not provided	clinical testing	PubMed (1)
7	not provided	not provided	not provided	not provided	in vivo	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	inherited	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
4	inherited	no	not provided	not provided	not provided		1	not provided	not provided	not provided
5	inherited	no	not provided	not provided	not provided		1	not provided	not provided	not provided
6	inherited	no	not provided	not provided	not provided		1	not provided	not provided	not provided
7	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 26, 2023

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