NM_000157.4(GBA1):c.203dup (p.Thr69fs) AND not specified

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 7, 2016
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:: RCV004035432.1

Allele description [Variation Report for NM_000157.4(GBA1):c.203dup (p.Thr69fs)]

NM_000157.4(GBA1):c.203dup (p.Thr69fs)

Genes:

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

Variant type:

Duplication

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_000157.4(GBA1):c.203dup (p.Thr69fs)

HGVS:

NC_000001.11:g.155239995dup
NG_009783.1:g.9708dup
NG_042867.1:g.6457dup
NM_000157.4:c.203dupMANE SELECT
NM_001005741.3:c.203dup
NM_001005742.3:c.203dup
NM_001171811.2:c.-59dup
NM_001171812.2:c.203dup
NP_000148.2:p.Thr69fs
NP_001005741.1:p.Thr69fs
NP_001005742.1:p.Thr69fs
NP_001165283.1:p.Thr69fs
NC_000001.10:g.155209786dup
NM_000157.4:c.203dup
NM_001005741.2:c.203dup
NM_001005741.2:c.203dupC
NM_001005742.2:c.203dupC

Protein change:

T69fs

Links:

dbSNP: rs1170895261

NCBI 1000 Genomes Browser:

rs1170895261

Molecular consequence:

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

Condition(s)

Synonyms:: AllHighlyPenetrant
Identifiers:: MedGen: CN169374

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002755487	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Dec 7, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002755487

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Dec 7, 2016)

germline

clinical testing

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

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

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

Details of each submission

From Ambry Genetics, SCV002755487.2

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

Description

The c.203dupC pathogenic mutation, located in coding exon 3 of the GBA gene, results from a duplication of C at nucleotide position 203, causing a translational frameshift with a predicted alternate stop codon (p.T69Dfs*12). This mutation was reported in a non-Jewish individual with Gaucher disease type 1 (Koprivica V et al. Am. J. Hum. Genet., 2000 Jun;66:1777-86). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#	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: Nov 24, 2024

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