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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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024734OMIM
no assertion criteria provided
Pathogenic
(Jul 1, 1990) 		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

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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature 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.

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

Last Updated: Oct 7, 2023