NM_033337.2(CAV3):c.84C>A (p.Asp28Glu) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: not provided (1 submission)
Last evaluated:: Apr 15, 2012
Review status:: no classification 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:: RCV000024386.1

Allele description

NM_033337.2(CAV3):c.84C>A (p.Asp28Glu)

Genes:

CAV3:caveolin 3 [Gene - OMIM - HGNC]
SSUH2:ssu-2 homolog [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_033337.2(CAV3):c.84C>A (p.Asp28Glu)

HGVS:

NC_000003.12:g.8733960C>A
NG_008797.2:g.5151C>A
NM_001234.5:c.84C>A
NM_033337.2:c.84C>A
NP_001225.1:p.Asp28Glu
NP_203123.1:p.Asp28Glu
LRG_329t1:c.84C>A
LRG_329:g.5151C>A
LRG_329p1:p.Asp28Glu
NC_000003.11:g.8775646C>A
P56539:p.Asp28Glu
p.(Asp28Glu)

Protein change:

D28E; ASP28GLU

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00010; UniProtKB: P56539#VAR_015374; OMIM: 601253.0008; dbSNP: rs116840782

NCBI 1000 Genomes Browser:

rs116840782

Molecular consequence:

NM_001234.5:c.84C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_033337.2:c.84C>A - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045680	Leiden Muscular Dystrophy (CAV3)	no classification provided	not provided	germline	curation	PubMed (3) [See all records that cite these PMIDs] 12557291, 21294223, 19835634

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045680

Leiden Muscular Dystrophy (CAV3)

no classification provided

not provided

germline

curation

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	curation

Citations

PubMed

Consequences of a novel caveolin-3 mutation in a large German family.

Fischer D, Schroers A, Blümcke I, Urbach H, Zerres K, Mortier W, Vorgerd M, Schröder R.

Ann Neurol. 2003 Feb;53(2):233-41.

PubMed [citation]

PMID:: 12557291

Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.

Ullrich ND, Fischer D, Kornblum C, Walter MC, Niggli E, Zorzato F, Treves S.

Hum Mutat. 2011 Mar;32(3):309-17. doi: 10.1002/humu.21431. Epub 2011 Feb 3.

PubMed [citation]

PMID:: 21294223
PMCID:: PMC3132216

See all PubMed Citations (3)

Details of each submission

From Leiden Muscular Dystrophy (CAV3), SCV000045680.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (3)

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

Last Updated: May 19, 2021

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