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NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) AND GBA1-related disorder

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 20, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003419796.4

Allele description [Variation Report for NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)]

NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys)

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.1102C>T (p.Arg368Cys)
HGVS:
  • NC_000001.11:g.155236367G>A
  • NG_009783.1:g.13331C>T
  • NG_042867.1:g.2829G>A
  • NM_000157.4:c.1102C>TMANE SELECT
  • NM_001005741.2(GBA):c.1102C>T
  • NM_001005741.3:c.1102C>T
  • NM_001005742.3:c.1102C>T
  • NM_001171811.2:c.841C>T
  • NM_001171812.2:c.955C>T
  • NP_000148.2:p.Arg368Cys
  • NP_001005741.1:p.Arg368Cys
  • NP_001005742.1:p.Arg368Cys
  • NP_001165282.1:p.Arg281Cys
  • NP_001165283.1:p.Arg319Cys
  • NC_000001.10:g.155206158G>A
  • NM_001005741.2(GBA):c.1102C>T
  • NM_001005741.2:c.1102C>T
  • p.Arg368Cys
Protein change:
R281C
Links:
dbSNP: rs374306700
NCBI 1000 Genomes Browser:
rs374306700
Molecular consequence:
  • NM_000157.4:c.1102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1102C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.841C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.955C>T - 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
SCV004107085PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Dec 20, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004107085.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

The GBA1 c.1102C>T variant is predicted to result in the amino acid substitution p.Arg368Cys. This variant, also known as R329C, has been reported in at least three individuals with Gaucher disease in the compound heterozygous state with a known pathogenic variant (Ankleshwaria et al. 2014. PubMed ID: 24522292; Sheth et al. 2018. PubMed ID: 30285649; Rozenberg et al. 2006. PubMed ID: 17059888) and it was confirmed to be biparentally inherited in at least one case (Ankleshwaria et al. 2014. PubMed ID: 24522292). This variant has also been reported in at least two individuals with Parkinson disease in the heterozygous state (Lwin et al. 2004. PubMed ID: 14728994; Petrucci et al. 2020. PubMed ID: 32658388). Glucocerebrosidase activity in the brain of patient with Parkinson disease who was heterozygous for this variant, was 64% (Lwin et al. 2004. PubMed ID: 14728994). Enzymatic activity in leukocytes was below normal range in patient with Gaucher disease with this variant in compound heterozygous state with another pathogenic variant p.Leu483Pro, also known as L444P (Sheth et al. 2018. PubMed ID: 30285649). This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/1-155206158-G-A). In summary, this variant is interpreted as likely pathogenic.

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

Last Updated: May 12, 2024