U.S. flag

An official website of the United States government

NM_033337.3(CAV3):c.314C>T (p.Pro105Leu) 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:
RCV000024379.4

Allele description [Variation Report for NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)]

NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)

Genes:
CAV3:caveolin 3 [Gene - OMIM - HGNC]
OXTR:oxytocin receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.3
Genomic location:
Preferred name:
NM_033337.3(CAV3):c.314C>T (p.Pro105Leu)
HGVS:
  • NC_000003.12:g.8745725C>T
  • NG_008797.2:g.16916C>T
  • NM_001234.5:c.314C>T
  • NM_033337.3:c.314C>TMANE SELECT
  • NP_001225.1:p.Pro105Leu
  • NP_203123.1:p.Pro105Leu
  • NP_203123.1:p.Pro105Leu
  • LRG_329t1:c.314C>T
  • LRG_329:g.16916C>T
  • LRG_329p1:p.Pro105Leu
  • NC_000003.11:g.8787411C>T
  • NM_033337.2:c.314C>T
  • P56539:p.Pro105Leu
  • p.(Pro105Leu)
  • r.314c>u
Protein change:
P105L; PRO105LEU
Links:
Leiden Muscular Dystrophy (CAV3): CAV3_00001; UniProtKB: P56539#VAR_001403; OMIM: 601253.0001; dbSNP: rs116840805
NCBI 1000 Genomes Browser:
rs116840805
Molecular consequence:
  • NM_001234.5:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033337.3:c.314C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
functional variant [Sequence Ontology: SO:0001536]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000045672Leiden Muscular Dystrophy (CAV3)
no classification provided
not providedgermlinecuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

Betz RC, Schoser BG, Kasper D, Ricker K, Ramírez A, Stein V, Torbergsen T, Lee YA, Nöthen MM, Wienker TF, Malin JP, Propping P, Reis A, Mortier W, Jentsch TJ, Vorgerd M, Kubisch C.

Nat Genet. 2001 Jul;28(3):218-9.

PubMed [citation]
PMID:
11431690

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

Details of each submission

From Leiden Muscular Dystrophy (CAV3), SCV000045672.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023