NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del) AND not provided

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:: RCV000024380.4

Allele description [Variation Report for NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)]

NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)

Genes:

CAV3:caveolin 3 [Gene - OMIM - HGNC]
OXTR:oxytocin receptor [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_033337.3(CAV3):c.189_197del (p.Thr64_Thr66del)

HGVS:

NC_000003.12:g.8745600_8745608del
NG_008797.2:g.16791_16799del
NM_001234.5:c.189_197del
NM_033337.3:c.189_197delMANE SELECT
NP_001225.1:p.Thr64_Thr66del
NP_203123.1:p.Thr64_Thr66del
NP_203123.1:p.Thr64_Thr66del
LRG_329t1:c.189_197del
LRG_329:g.16791_16799del
LRG_329p1:p.Thr64_Thr66del
NC_000003.11:g.8787286_8787294del
NM_033337.2:c.189_197del
r.189_197del

Links:

Leiden Muscular Dystrophy (CAV3): CAV3_00002; OMIM: 601253.0002; dbSNP: rs199476331

NCBI 1000 Genomes Browser:

rs199476331

Molecular consequence:

NM_001234.5:c.189_197del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_033337.3:c.189_197del - inframe_deletion - [Sequence Ontology: SO:0001822]

Functional consequence:

functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045673	Leiden Muscular Dystrophy (CAV3)	no classification provided	not provided	germline	curation	PubMed (2) [See all records that cite these PMIDs] 09537420, 14600260

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045673

Leiden Muscular Dystrophy (CAV3)

no classification provided

not provided

germline

curation

PubMed (2)
[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

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

Minetti C, Sotgia F, Bruno C, Scartezzini P, Broda P, Bado M, Masetti E, Mazzocco M, Egeo A, Donati MA, Volonte D, Galbiati F, Cordone G, Bricarelli FD, Lisanti MP, Zara F.

Nat Genet. 1998 Apr;18(4):365-8.

PubMed [citation]

PMID:: 9537420

A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes.

Smythe GM, Eby JC, Disatnik MH, Rando TA.

J Cell Sci. 2003 Dec 1;116(Pt 23):4739-49.

PubMed [citation]

PMID:: 14600260

Details of each submission

From Leiden Muscular Dystrophy (CAV3), SCV000045673.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)

#	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: Aug 5, 2023

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