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NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) AND Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 1, 2015
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:
RCV000766128.1

Allele description [Variation Report for NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)]

NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)

Gene:
CAV1:caveolin 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q31.2
Genomic location:
Preferred name:
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter)
HGVS:
  • NC_000007.14:g.116559174C>T
  • NG_012051.1:g.39390C>T
  • NM_001172895.1:c.331C>T
  • NM_001172896.2:c.331C>T
  • NM_001172897.2:c.331C>T
  • NM_001753.5:c.424C>TMANE SELECT
  • NP_001166366.1:p.Gln111Ter
  • NP_001166367.1:p.Gln111Ter
  • NP_001166368.1:p.Gln111Ter
  • NP_001744.2:p.Gln142Ter
  • NC_000007.13:g.116199228C>T
  • NM_001753.4:c.424C>T
Protein change:
Q111*; GLN142TER
Links:
OMIM: 601047.0005; dbSNP: rs797045176
NCBI 1000 Genomes Browser:
rs797045176
Molecular consequence:
  • NM_001172895.1:c.331C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001172896.2:c.331C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001172897.2:c.331C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001753.5:c.424C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome (FPLD7)
Identifiers:
MONDO: MONDO:0011714; MedGen: C3807567; OMIM: 606721

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000897606OMIM
no assertion criteria provided
Pathogenic
(Aug 1, 2015) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.

Garg A, Kircher M, Del Campo M, Amato RS, Agarwal AK; University of Washington Center for Mendelian Genomics..

Am J Med Genet A. 2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21.

PubMed [citation]
PMID:
25898808
PMCID:
PMC5086082

Details of each submission

From OMIM, SCV000897606.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 7-year-old boy from Spain (patient NLD 1500.4) with familial partial lipodystrophy type 7 (FPLD7; 606721), Garg et al. (2015) identified a de novo heterozygous c.424C-T transition (chr7.116,199,228C-T, GRCh37) in exon 3 of the CAV1 gene, resulting in a gln142-to-ter (Q142X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was filtered against the 1000 Genomes Project and Exome Sequencing Project databases. Patient fibroblasts showed significantly reduced expression of CAV1 compared to controls, but there were no differences in the number or morphology of caveolae compared to controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023