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NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter) AND Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 29, 2023
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:
RCV003325252.1

Allele description [Variation Report for NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)]

NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)

Gene:
VLDLR:very low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p24.2
Genomic location:
Preferred name:
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
Other names:
W50*
HGVS:
  • NC_000009.12:g.2635519G>A
  • NG_012741.1:g.18727G>A
  • NG_012741.2:g.18734G>A
  • NM_001018056.3:c.149G>A
  • NM_001322225.2:c.149G>A
  • NM_001322226.2:c.149G>A
  • NM_003383.5:c.149G>AMANE SELECT
  • NP_001018066.1:p.Trp50Ter
  • NP_001309154.1:p.Trp50Ter
  • NP_001309155.1:p.Trp50Ter
  • NP_003374.3:p.Trp50Ter
  • NC_000009.11:g.2635519G>A
Note:
NCBI staff provided NM_003383.5:c.149G>A as the HGVS expression for allelic variant 192977.0009. The nucleotide change was not reported in the paper, so the variant could also have been NM_003383.5:c.150G>A.
Protein change:
TRP50TER
Links:
OMIM: 192977.0009
Molecular consequence:
  • NM_001018056.3:c.149G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322225.2:c.149G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001322226.2:c.149G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003383.5:c.149G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (CAMRQ1)
Synonyms:
CEREBELLAR ATAXIA AND MENTAL RETARDATION WITH OR WITHOUT QUADRUPEDAL LOCOMOTION 1; CEREBELLAR ATAXIA, CONGENITAL, AND MENTAL RETARDATION, AUTOSOMAL RECESSIVE; Cerebellar hypoplasia, VLDLR associated; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0024542; MedGen: C4551552; Orphanet: 1766; OMIM: 224050

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004031071OMIM
no assertion criteria provided
Pathogenic
(Aug 29, 2023) 		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

RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.

Valence S, Garel C, Barth M, Toutain A, Paris C, Amsallem D, Barthez MA, Mayer M, Rodriguez D, Burglen L.

Clin Genet. 2016 Dec;90(6):545-549. doi: 10.1111/cge.12779. Epub 2016 Apr 29.

PubMed [citation]
PMID:
27000652

Details of each submission

From OMIM, SCV004031071.1

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

Description

In a patient (patient 4) with cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome (CAMRQ1; 224050), Valence et al. (2016) identified compound heterozygous mutations in the VLDLR gene: a trp50-to-ter (W50X) substitution and a glu654-to-gly (E654G; 192977.0010) substitution. The mutations were identified by sequencing of the VLDLR gene; the parents were not tested for the mutations. The D654G mutation was not present in the dbSNP, ExAC, and ESP variant databases.

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

Last Updated: Oct 21, 2023