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NM_001005741.2(GBA1):c.[880T>G;1342G>C] AND Gaucher disease type III

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 2005
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:
RCV000004581.12

Alleles description [Variation Report for NM_001005741.2(GBA1):c.[880T>G;1342G>C]]

NM_000157.4(GBA1):c.1342G>C (p.Asp448His)

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.1342G>C (p.Asp448His)
Other names:
D409H
HGVS:
  • NC_000001.11:g.155235727C>G
  • NG_009783.1:g.13971G>C
  • NG_042867.1:g.2189C>G
  • NM_000157.3(GBA):c.1342G>C
  • NM_000157.4:c.1342G>CMANE SELECT
  • NM_001005741.3:c.1342G>C
  • NM_001005742.3:c.1342G>C
  • NM_001171811.2:c.1081G>C
  • NM_001171812.2:c.1195G>C
  • NP_000148.2:p.Asp448His
  • NP_001005741.1:p.Asp448His
  • NP_001005742.1:p.Asp448His
  • NP_001165282.1:p.Asp361His
  • NP_001165283.1:p.Asp399His
  • NC_000001.10:g.155205518C>G
  • NM_000157.3(GBA):c.1342G>C
  • NM_000157.3:c.1342G>C
  • NM_000157.4:c.1342G>C
  • NM_001005741.2:c.1342G>C
  • NM_001005741.3:c.1342G>C
  • NM_001005742.2:c.1342G>C
  • NM_001005742.3:c.1342G>C
  • P04062:p.Asp448His
  • c.1342G>C (p.Asp448His)
Protein change:
D361H; ASP409HIS
Links:
UniProtKB: P04062#VAR_003313; OMIM: 606463.0006; OMIM: 606463.0047; dbSNP: rs1064651
NCBI 1000 Genomes Browser:
rs1064651
Molecular consequence:
  • NM_000157.4:c.1342G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1342G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1342G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.1081G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1195G>C - missense variant - [Sequence Ontology: SO:0001583]

NM_000157.4(GBA1):c.882T>G (p.His294Gln)

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.882T>G (p.His294Gln)
Other names:
H255Q
HGVS:
  • NC_000001.11:g.155237458A>C
  • NG_009783.1:g.12240T>G
  • NG_042867.1:g.3920A>C
  • NM_000157.4:c.882T>GMANE SELECT
  • NM_001005741.2(GBA):c.882T>G
  • NM_001005741.3:c.882T>G
  • NM_001005742.3:c.882T>G
  • NM_001171811.2:c.621T>G
  • NM_001171812.2:c.735T>G
  • NP_000148.2:p.His294Gln
  • NP_001005741.1:p.His294Gln
  • NP_001005741.1:p.His294Gln
  • NP_001005742.1:p.His294Gln
  • NP_001165282.1:p.His207Gln
  • NP_001165283.1:p.His245Gln
  • NC_000001.10:g.155207249A>C
  • NM_000157.3:c.882T>G
  • NM_000157.4:c.882T>G
  • NM_001005741.2(GBA):c.882T>G
  • NM_001005741.2:c.882T>G
  • NM_001005741.3:c.882T>G
  • NM_001005742.2:c.882T>G
  • NM_001005742.3:c.882T>G
  • P04062:p.His294Gln
Protein change:
H207Q; HIS255GLN
Links:
UniProtKB: P04062#VAR_009040; OMIM: 606463.0047; dbSNP: rs367968666
NCBI 1000 Genomes Browser:
rs367968666
Molecular consequence:
  • NM_000157.4:c.882T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.882T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.882T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.621T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.735T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher disease type III
Synonyms:
GD III; GD 3; Gaucher disease, juvenile and adult, cerebral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009267; MedGen: C0268251; Orphanet: 355; Orphanet: 77261; OMIM: 231000

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024755OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 2005) 		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

Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease.

Filocamo M, Grossi S, Stroppiano M, Tortori-Donati P, Regis S, Allegri A, Di Rocco M.

Am J Med Genet A. 2005 Apr 1;134A(1):95-6. No abstract available.

PubMed [citation]
PMID:
15690354

Details of each submission

From OMIM, SCV000024755.2

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

Description

In a 25-month-old girl with an atypical form of neuronopathic Gaucher disease between type II (230900) and type III (231000), Filocamo et al. (2005) identified homozygosity for a complex allele containing 2 GBA mutations in cis: an 882T-G transversion in exon 7 resulting in a his255-to-gln (H255Q) substitution and a 1342G-C transversion in exon 10 resulting in an asp409-to-his (D409H; 606463.0006) substitution. Onset of symptoms occurred at age 5 months with hepatosplenomegaly. A few months later, she developed neurologic features, including spasticity with persistent retroflexion of the neck, convergent strabismus, oculomotor apraxia, and abnormal MRI changes. At age 25 months, she showed slow symptom progression and was able to sit alone, walk with support, and pronounce some words.

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

Last Updated: Nov 10, 2024