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NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn) AND GBA1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 30, 2024
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:
RCV004752008.1

Allele description [Variation Report for NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)]

NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)

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.1255G>A (p.Asp419Asn)
HGVS:
  • NC_000001.11:g.155235814C>T
  • NG_009783.1:g.13884G>A
  • NG_042867.1:g.2276C>T
  • NM_000157.4:c.1255G>AMANE SELECT
  • NM_001005741.3:c.1255G>A
  • NM_001005742.3:c.1255G>A
  • NM_001171811.2:c.994G>A
  • NM_001171812.2:c.1108G>A
  • NP_000148.2:p.Asp419Asn
  • NP_001005741.1:p.Asp419Asn
  • NP_001005742.1:p.Asp419Asn
  • NP_001165282.1:p.Asp332Asn
  • NP_001165283.1:p.Asp370Asn
  • NC_000001.10:g.155205605C>T
  • NM_001005741.2:c.1255G>A
Protein change:
D332N
Links:
dbSNP: rs1671712475
NCBI 1000 Genomes Browser:
rs1671712475
Molecular consequence:
  • NM_000157.4:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1255G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.994G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1108G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GBA1-related disorder
Synonyms:
GBA1-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005349837PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Likely pathogenic
(Jul 30, 2024) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV005349837.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The GBA1 c.1255G>A variant is predicted to result in the amino acid substitution p.Asp419Asn. This variant was reported together with second GBA1 variant in at least two individuals with Gaucher disease (Table 4, as c.1255G>A, p.Asp380Asn, Beutler et al. 1994. PubMed ID: 8790604; Table 3, Malini et al. 2013. PubMed ID: 24022302). In vitro functional study showed that this variant completely abolishes GBA1 enzymatic activity (Figure 1, Malini et al. 2013. PubMed ID: 24022302). This variant has not been reported in a large population database, indicating this variant is rare. This variant is interpreted as likely pathogenic.

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

Last Updated: Oct 13, 2024