NM_004281.4(BAG3):c.775C>T (p.Pro259Ser) AND Elevated circulating creatine kinase concentration

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:: RCV001619782.1

Allele description [Variation Report for NM_004281.4(BAG3):c.775C>T (p.Pro259Ser)]

NM_004281.4(BAG3):c.775C>T (p.Pro259Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.11

Genomic location:

Preferred name:

NM_004281.4(BAG3):c.775C>T (p.Pro259Ser)

HGVS:

NC_000010.11:g.119672522C>T
NG_016125.1:g.26153C>T
NM_004281.4:c.775C>TMANE SELECT
NP_004272.2:p.Pro259Ser
LRG_742:g.26153C>T
NC_000010.10:g.121432034C>T
NC_000010.10:g.121432034C>T

Protein change:

P259S

Links:

dbSNP: rs375687199

NCBI 1000 Genomes Browser:

rs375687199

Molecular consequence:

NM_004281.4:c.775C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Elevated circulating creatine kinase concentration
Synonyms:: HYPERCKEMIA, IDIOPATHIC; Elevated serum creatine phosphokinase; CAV3-Related Isolated HyperCKemia
Identifiers:: MONDO: MONDO:0007402; MedGen: C0241005; OMIM: 123320; Human Phenotype Ontology: HP:0003236

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001847701	Institute of Human Genetics, University of Wuerzburg	no assertion criteria provided	Uncertain significance	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001847701

Institute of Human Genetics, University of Wuerzburg

no assertion criteria provided

Uncertain significance

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Institute of Human Genetics, University of Wuerzburg, SCV001847701.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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