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NM_000157.4(GBA1):c.334C>T (p.Gln112Ter) AND Gaucher disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2020
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:
RCV001264492.1

Allele description [Variation Report for NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)]

NM_000157.4(GBA1):c.334C>T (p.Gln112Ter)

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.334C>T (p.Gln112Ter)
HGVS:
  • NC_000001.11:g.155239736G>A
  • NG_009783.1:g.9962C>T
  • NG_042867.1:g.6198G>A
  • NM_000157.4:c.334C>TMANE SELECT
  • NM_001005741.3:c.334C>T
  • NM_001005742.3:c.334C>T
  • NM_001171811.2:c.73C>T
  • NM_001171812.2:c.307+150C>T
  • NP_000148.2:p.Gln112Ter
  • NP_001005741.1:p.Gln112Ter
  • NP_001005742.1:p.Gln112Ter
  • NP_001165282.1:p.Gln25Ter
  • NC_000001.10:g.155209527G>A
  • NM_001005741.2:c.334C>T
Protein change:
Q112*
Links:
dbSNP: rs1671974195
NCBI 1000 Genomes Browser:
rs1671974195
Molecular consequence:
  • NM_001171812.2:c.307+150C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000157.4:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001005741.3:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001005742.3:c.334C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001171811.2:c.73C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Gaucher disease
Synonyms:
Acute cerebral Gaucher disease; Cerebroside lipidosis syndrome; Gaucher splenomegaly; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0018150; MedGen: C0017205

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001442670Women's Health and Genetics/Laboratory Corporation of America, LabCorp
criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)		Pathogenic
(Oct 1, 2020) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

Hruska KS, LaMarca ME, Scott CR, Sidransky E.

Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Review.

PubMed [citation]
PMID:
18338393

Hematologically important mutations: Gaucher disease.

Beutler E, Gelbart T, Scott CR.

Blood Cells Mol Dis. 2005 Nov-Dec;35(3):355-64. Epub 2005 Sep 26. Review. No abstract available.

PubMed [citation]
PMID:
16185900
See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV001442670.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

Variant summary: GBA c.334C>T (p.Gln112X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant was absent in 251474 control chromosomes. c.334C>T has been reported in the literature in at-least one individual with Gaucher disease that has been subsequently cited by others (example, Beutler_2005, Hruska_2008) and as a heterozygous variant in one patient with a mixed parkinsonism-cerebellar subtype MSA having a neuropathological phenotype with no evidence of concomitant Lewy body pathology (Wernick_2020). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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

Last Updated: Oct 7, 2023