NM_000157.3(GBA):c.1246G>A (p.Gly416Ser) AND Gaucher's disease, type 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Apr 3, 2017
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:: RCV000004571.3

Allele description

NM_000157.3(GBA):c.1246G>A (p.Gly416Ser)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_000157.3(GBA):c.1246G>A (p.Gly416Ser)

HGVS:

NC_000001.11:g.155235823C>T
NG_009783.1:g.13875G>A
NM_000157.3:c.1246G>A
NM_001005741.2:c.1246G>A
NM_001005742.2:c.1246G>A
NM_001171811.1:c.985G>A
NM_001171812.1:c.1099G>A
NP_000148.2:p.Gly416Ser
NP_001005741.1:p.Gly416Ser
NP_001005742.1:p.Gly416Ser
NP_001165282.1:p.Gly329Ser
NP_001165283.1:p.Gly367Ser
NC_000001.10:g.155205614C>T
P04062:p.Gly416Ser

Protein change:

G329S; GLY377SER

Links:

UniProtKB: P04062#VAR_003303; OMIM: 606463.0040; dbSNP: rs121908311

NCBI 1000 Genomes Browser:

rs121908311

Allele Frequency:

0.00001(T)

Molecular consequence:

NM_001005741.2:c.1246G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Gaucher's disease, type 1
Synonyms:: GBA DEFICIENCY; GD I; Gaucher Disease, Type 1; See all synonyms [MedGen]
Identifiers:: MedGen: C1961835; Orphanet: 355; Orphanet: 77259; OMIM: 230800

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000024745	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2003)	germline	literature only	PubMed (3) [See all records that cite these PMIDs] 10466427, 2569551, 12595585
SCV000700355	EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	criteria provided, single submitter (EGL Classification Definitions)	Pathogenic (Apr 3, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000024745

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2003)

germline

literature only

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

SCV000700355

EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

criteria provided, single submitter

(EGL Classification Definitions)

Pathogenic
(Apr 3, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	unknown	3	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Homozygosity for two mild glucocerebrosidase mutations of probable Iberian origin.

Amaral O, Lacerda L, Marcão A, Pinto E, Tamagnini G, Sá Miranda MC.

Clin Genet. 1999 Jul;56(1):100-2. No abstract available.

PubMed [citation]

PMID:: 10466427

Prediction of severity of Gaucher's disease by identification of mutations at DNA level.

Zimran A, Sorge J, Gross E, Kubitz M, West C, Beutler E.

Lancet. 1989 Aug 12;2(8659):349-52.

PubMed [citation]

PMID:: 2569551

See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000024745.2

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

Description

In 3 Portuguese patients with type I Gaucher disease (230800), Amaral et al. (1999) identified homozygosity for a gly377-to-ser (G377S) substitution in the GBA gene. All 3 had mild to moderate severity with severity score indices (SSI), as defined by Zimran et al. (1989), of 8, 14, and 10, respectively. One of them had had splenectomy at age 9; the other 2 had recognized onset at ages 39 and 48 years. G377S seems to be common in Iberian patients, representing 7% and 5% of alleles in Portuguese and Spanish patients, respectively, according to Amaral et al. (1999).

Park et al. (2003) identified a heterozygous G377S mutation in patients with type III Gaucher disease (231000); they had additional pathogenic GBA mutations.

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

From EGL Genetic Diagnostics,Eurofins Clinical Diagnostics, SCV000700355.1

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

#	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		3	not provided	not provided	not provided

Last Updated: Jul 21, 2018

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