NM_000157.4(GBA1):c.203del (p.Pro68fs) AND Gaucher disease

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 4, 2021
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:: RCV001779544.1

Allele description [Variation Report for NM_000157.4(GBA1):c.203del (p.Pro68fs)]

NM_000157.4(GBA1):c.203del (p.Pro68fs)

Genes:

LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_000157.4(GBA1):c.203del (p.Pro68fs)

HGVS:

NC_000001.11:g.155239995del
NG_009783.1:g.9708del
NG_042867.1:g.6457del
NM_000157.4:c.203delMANE SELECT
NM_001005741.3:c.203del
NM_001005742.3:c.203del
NM_001171811.2:c.-59del
NM_001171812.2:c.203del
NP_000148.2:p.Pro68fs
NP_001005741.1:p.Pro68fs
NP_001005742.1:p.Pro68fs
NP_001165283.1:p.Pro68fs
NC_000001.10:g.155209786del
NM_001005741.2:c.203delC

Protein change:

P68fs

Links:

dbSNP: rs1170895261

NCBI 1000 Genomes Browser:

rs1170895261

Molecular consequence:

NM_001171811.2:c.-59del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000157.4:c.203del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001005741.3:c.203del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001005742.3:c.203del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001171812.2:c.203del - frameshift variant - [Sequence Ontology: SO:0001589]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002015172	Women's Health and Genetics/Laboratory Corporation of America, LabCorp	criteria provided, single submitter (LabCorp Variant Classification Summary - May 2015)	Pathogenic (Oct 4, 2021)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 15605411, 10796875, 28727984 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002015172

Women's Health and Genetics/Laboratory Corporation of America, LabCorp

criteria provided, single submitter

(LabCorp Variant Classification Summary - May 2015)

Pathogenic
(Oct 4, 2021)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.

Miocić S, Filocamo M, Dominissini S, Montalvo AL, Vlahovicek K, Deganuto M, Mazzotti R, Cariati R, Bembi B, Pittis MG.

Hum Mutat. 2005 Jan;25(1):100.

PubMed [citation]

PMID:: 15605411

Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.

Koprivica V, Stone DL, Park JK, Callahan M, Frisch A, Cohen IJ, Tayebi N, Sidransky E.

Am J Hum Genet. 2000 Jun;66(6):1777-86. Epub 2000 May 4.

PubMed [citation]

PMID:: 10796875
PMCID:: PMC1378059

See all PubMed Citations (3)

Details of each submission

From Women's Health and Genetics/Laboratory Corporation of America, LabCorp, SCV002015172.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

Variant summary: GBA c.203delC (p.Pro68ArgfsX23) 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 251298 control chromosomes. c.203delC has been reported in the literature in individuals affected with Gaucher Disease (e.g Koprivica_2000, Miocic_2005, Zampieri_2017). These data indicate that the variant is likely to be associated with disease. 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.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 16, 2024

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