NM_033337.3(CAV3):c.10_17del (p.Glu4fs) AND Elevated circulating creatine kinase concentration

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 2022
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:: RCV002248512.1

Allele description [Variation Report for NM_033337.3(CAV3):c.10_17del (p.Glu4fs)]

NM_033337.3(CAV3):c.10_17del (p.Glu4fs)

Gene:

CAV3:caveolin 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_033337.3(CAV3):c.10_17del (p.Glu4fs)

HGVS:

NC_000003.12:g.8733886_8733893del
NG_008797.2:g.5077_5084del
NM_001234.5:c.10_17del
NM_033337.3:c.10_17delMANE SELECT
NP_001225.1:p.Glu4fs
NP_203123.1:p.Glu4fs
NP_203123.1:p.Glu4fs
LRG_329t1:c.10_17del
LRG_329:g.5077_5084del
LRG_329p1:p.Glu4fs
NC_000003.11:g.8775569_8775576del
NC_000003.11:g.8775572_8775579del
NC_000003.12:g.8733883_8733890delGCAGAAGA
NM_033337.2:c.10_17del
NM_033337.2:c.10_17delGAAGAGCA

Protein change:

E4fs

Links:

dbSNP: rs778914298

NCBI 1000 Genomes Browser:

rs778914298

Molecular consequence:

NM_001234.5:c.10_17del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_033337.3:c.10_17del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002518643	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002518643

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002518643.1

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

Last Updated: Sep 29, 2024

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