NM_001005741.2(GBA):c.259C>T (p.Arg87Trp) AND Gaucher's disease, type 1

Clinical significance:Pathogenic (Last evaluated: Feb 20, 2014)

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000004565.3

Allele description [Variation Report for ]

Gene:
GBA:glucosidase, beta, acid [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_001005741.2(GBA):c.259C>T (p.Arg87Trp)
HGVS:
  • NC_000001.11:g.155239934G>A
  • NG_009783.1:g.9764C>T
  • NM_001005741.2:c.259C>T
  • NP_001005741.1:p.Arg87Trp
  • NC_000001.10:g.155209725G>A
Nucleotide change:
259C-T
Protein change:
R87W
Links:
OMIM: 606463.0033; dbSNP: 1141814
NCBI 1000 Genomes Browser:
rs1141814
Molecular consequence:
  • NM_001171811.1:c.-3C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001005741.2:c.259C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher's disease, type 1
Synonyms:
GBA DEFICIENCY; GD I; Gaucher Disease, Type 1; See all synonyms [MedGen]
Identifiers:
MedGen: C1961835; Orphanet: 355; Orphanet: 77259; OMIM: 230800
Age of onset:
Variable
Prevalence:
1-9 / 100 000 35577259

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Assertion and evidence details

Submission AccessionSubmitterReview StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000024739OMIMPathogenic
(Feb 20, 2014)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only, literature only

Citations

PubMed

Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.

Rockah R, Narinsky R, Hatskelzon L, Frisch A.

Am J Med Genet. 1997 Oct 3;72(1):77-8.

PubMed [citation]
PMID:
9295080

Five new Gaucher disease mutations.

Beutler E, Gelbart T, Demina A, Zimran A, LeCoutre P.

Blood Cells Mol Dis. 1995;21(1):20-4.

PubMed [citation]
PMID:
7655857

Details of each submission

From OMIM, SCV000024739.3

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a Bedouin patient with type I Gaucher disease (230800), Rockah et al. (1997) identified a homozygous 259C-T transition (1763 genomic DNA) in the GBA gene. The patient was 26 years old and had moderate thrombocytopenia and an enlarged spleen and liver, as well as Gaucher cells in a bone marrow biopsy and low levels of glucocerebrosidase activity. The same mutation in compound heterozygous state had been described by Beutler et al. (1995) in a Bedouin patient with type I Gaucher disease; this patient carried a 1448G mutation in addition to the 259T mutation. His phenotype was severe but with no neurologic signs.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 26, 2015

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