NM_000157.4(GBA1):c.1043C>T (p.Ala348Val) AND Gaucher disease type I

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 1990
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:: RCV000004560.5

Allele description [Variation Report for NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)]

NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)

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.1043C>T (p.Ala348Val)

Other names:

A309V

HGVS:

NC_000001.11:g.155236426G>A
NG_009783.1:g.13272C>T
NG_042867.1:g.2888G>A
NM_000157.4:c.1043C>TMANE SELECT
NM_001005741.3:c.1043C>T
NM_001005742.3:c.1043C>T
NM_001171811.2:c.782C>T
NM_001171812.2:c.896C>T
NP_000148.2:p.Ala348Val
NP_001005741.1:p.Ala348Val
NP_001005742.1:p.Ala348Val
NP_001165282.1:p.Ala261Val
NP_001165283.1:p.Ala299Val
NC_000001.10:g.155206217G>A
P04062:p.Ala348Val

Protein change:

A261V; ALA309VAL

Links:

UniProtKB: P04062#VAR_003289; OMIM: 606463.0028; dbSNP: rs78396650

NCBI 1000 Genomes Browser:

rs78396650

Molecular consequence:

NM_000157.4:c.1043C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005741.3:c.1043C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001005742.3:c.1043C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001171811.2:c.782C>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001171812.2:c.896C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Gaucher disease type I (GD1)
Synonyms:: GBA DEFICIENCY; GD I; Gaucher's disease, type 1; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009265; MedGen: C1961835; Orphanet: 355; Orphanet: 77259; OMIM: 230800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024734	OMIM	no assertion criteria provided	Pathogenic (Jul 1, 1990)	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

SCV000024734

OMIM

no assertion criteria provided

Pathogenic
(Jul 1, 1990)

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

Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

Latham T, Grabowski GA, Theophilus BD, Smith FI.

Am J Hum Genet. 1990 Jul;47(1):79-86.

PubMed [citation]

PMID:: 2349952
PMCID:: PMC1683763

Details of each submission

From OMIM, SCV000024734.5

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

Description

In a patient with type I Gaucher disease (230800), Latham et al. (1991) identified a 5259G-T transversion in the GBA gene, resulting in an ala309-to-val (A309V) substitution.

#	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 7, 2023

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