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NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) AND Gaucher disease type II

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 1, 2009
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:
RCV000004529.14

Allele description [Variation Report for NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)]

NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)

Genes:
LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q22
Genomic location:
Preferred name:
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
Other names:
R463C; (p.Arg502Cys)
HGVS:
  • NC_000001.11:g.155235196G>A
  • NG_009783.1:g.14502C>T
  • NG_042867.1:g.1658G>A
  • NM_000157.4:c.1504C>TMANE SELECT
  • NM_001005741.3:c.1504C>T
  • NM_001005742.3:c.1504C>T
  • NM_001171811.2:c.1243C>T
  • NM_001171812.2:c.1357C>T
  • NP_000148.2:p.Arg502Cys
  • NP_001005741.1:p.Arg502Cys
  • NP_001005741.1:p.Arg502Cys
  • NP_001005742.1:p.Arg502Cys
  • NP_001165282.1:p.Arg415Cys
  • NP_001165283.1:p.Arg453Cys
  • NC_000001.10:g.155204987G>A
  • NM_000157.2:c.1504C>T
  • NM_000157.3:c.1504C>T
  • NM_000157.4:c.1504C>T
  • NM_001005741.2(GBA):c.1504C>T
  • NM_001005741.2:c.1504C>T
  • NM_001005742.2:c.1504C>T
  • NM_001005742.3:c.1504C>T
  • P04062:p.Arg502Cys
  • c.1504C>T (p.Arg502Cys)
Protein change:
R415C; ARG463CYS
Links:
UniProtKB: P04062#VAR_003324; OMIM: 606463.0008; dbSNP: rs80356771
NCBI 1000 Genomes Browser:
rs80356771
Molecular consequence:
  • NM_000157.4:c.1504C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1504C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1504C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.1243C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1357C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
Unknown function

Condition(s)

Name:
Gaucher disease type II (GD2)
Synonyms:
GD II; Gaucher disease type 2; GD 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009266; MedGen: C0268250; OMIM: 230900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024703OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 2009) 		germlineliterature only

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Sequence of two alleles responsible for Gaucher disease.

Hong CM, Ohashi T, Yu XJ, Weiler S, Barranger JA.

DNA Cell Biol. 1990 May;9(4):233-41.

PubMed [citation]
PMID:
1972019

Genetic diagnosis of Gaucher's disease.

Mistry PK, Smith SJ, Ali M, Hatton CS, McIntyre N, Cox TM.

Lancet. 1992 Apr 11;339(8798):889-92.

PubMed [citation]
PMID:
1348297
See all PubMed Citations (4)

Details of each submission

From OMIM, SCV000024703.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (4)

Description

Gaucher Disease

In a non-Jewish patient with type I Gaucher disease (230800), Hong et al. (1990) identified a 1504C-T transition in exon 10 of the GBA gene, resulting in an arg463-to-cys (R463C) substitution.

By the amplification refractory mutation system, Mistry et al. (1992) identified the R463C mutation and the L444P mutation (606463.0001) in association with rapidly progressive disease and neurologic involvement in non-Jewish patients (see 230900).

Park et al. (2003) identified the R463C mutation in patients with type III Gaucher disease (231000).

Parkinson Disease

Neumann et al. (2009) identified a heterozygous R463C mutation in 3 (0.38%) of 790 British patients with Parkinson disease (PD; 168600) that was not found in 257 controls, suggesting that heterozygosity for the mutation increases susceptibility for development of PD.

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

Last Updated: Nov 10, 2024