NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) AND Parkinson disease, late-onset

Germline classification:: risk factor (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:: RCV000004582.3

Allele description [Variation Report for NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)]

NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn)

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.1444G>A (p.Asp482Asn)

Other names:

D443N

HGVS:

NC_000001.11:g.155235256C>T
NG_009783.1:g.14442G>A
NG_042867.1:g.1718C>T
NM_000157.4:c.1444G>AMANE SELECT
NM_001005741.3:c.1444G>A
NM_001005742.3:c.1444G>A
NM_001171811.2:c.1183G>A
NM_001171812.2:c.1297G>A
NP_000148.2:p.Asp482Asn
NP_001005741.1:p.Asp482Asn
NP_001005742.1:p.Asp482Asn
NP_001165282.1:p.Asp395Asn
NP_001165283.1:p.Asp433Asn
NC_000001.10:g.155205047C>T
NM_000157.4:c.1444G>A
NM_001005741.2:c.1444G>A
P04062:p.Asp482Asn

Protein change:

D395N; ASP443ASN

Links:

UniProtKB: P04062#VAR_063067; OMIM: 606463.0048; dbSNP: rs75671029

NCBI 1000 Genomes Browser:

rs75671029

Molecular consequence:

NM_000157.4:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001005741.3:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001005742.3:c.1444G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001171811.2:c.1183G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001171812.2:c.1297G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Parkinson disease, late-onset (PD)
Synonyms:: Parkinson's disease; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO; Susceptibility to Parkinson's Disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008199; MedGen: C3160718; OMIM: 168600

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024756	OMIM	no assertion criteria provided	risk factor (Jul 1, 2009)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024756

OMIM

no assertion criteria provided

risk factor
(Jul 1, 2009)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH, Li A, Holton J, Guerreiro R, Paudel R, Segarane B, Singleton A, Lees A, Hardy J, Houlden H, Revesz T, Wood NW.

Brain. 2009 Jul;132(Pt 7):1783-94. doi: 10.1093/brain/awp044. Epub 2009 Mar 13.

PubMed [citation]

PMID:: 19286695
PMCID:: PMC2702833

Details of each submission

From OMIM, SCV000024756.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 1 (0.13%) of 790 British patients with Parkinson disease (PD; 168600), Neumann et al. (2009) identified a heterozygous 1444G-A transition in exon 10 of the GBA gene, resulting in an asp443-to-asn (D443N) substitution. The mutation was not found in 257 controls.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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