NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg) AND Gaucher disease type II

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 29, 2018
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000663363.3

Allele description [Variation Report for NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)]

NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)

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.1448T>G (p.Leu483Arg)

HGVS:

NC_000001.11:g.155235252A>C
NG_009783.1:g.14446T>G
NG_042867.1:g.1714A>C
NM_000157.4:c.1448T>GMANE SELECT
NM_001005741.2(GBA):c.1448T>G
NM_001005741.3:c.1448T>G
NM_001005742.3:c.1448T>G
NM_001171811.2:c.1187T>G
NM_001171812.2:c.1301T>G
NP_000148.2:p.Leu483Arg
NP_001005741.1:p.Leu483Arg
NP_001005742.1:p.Leu483Arg
NP_001165282.1:p.Leu396Arg
NP_001165283.1:p.Leu434Arg
NC_000001.10:g.155205043A>C
NM_000157.3:c.1448T>G
NM_001005741.2(GBA):c.1448T>G
NM_001005741.2:c.1448T>G

Protein change:

L396R

Links:

dbSNP: rs421016

NCBI 1000 Genomes Browser:

rs421016

Molecular consequence:

NM_000157.4:c.1448T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005741.3:c.1448T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005742.3:c.1448T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171811.2:c.1187T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171812.2:c.1301T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Gaucher disease type II (GD2)
Synonyms:: GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE; GD II; Acute neuronopathic Gaucher's disease
Identifiers:: MONDO: MONDO:0009266; MedGen: C0268250; OMIM: 230900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000786646	Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics	no assertion criteria provided	Likely pathogenic (Jun 29, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000786646

Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

no assertion criteria provided

Likely pathogenic
(Jun 29, 2018)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Indian Hindu	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000786646.2

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

Description

The observed variant c.1448T>G (p.Leu483Arg) was neither found in 1000 Genomes and ExAC databases. The in silico prediction of the given variant is disease causing by MutationTaster2, damaging by SIFT and probably damaging by PolyPhen2. This variant was detected as a compound heterozygous along with another variant c.1448T>C (p.Leu483Pro) in exon 10 of GBA gene. The variant c.1448T>C (p.Leu483Pro) has a minor allele frequency of 0.0034 in 1000 Genomes and 0.003099 in ExAC databases. Its dbSNP reference number is rs421016. The in silico prediction of the given variant is disease causing by MutationTaster2, damaging by SIFT and possibly damaging by PolyPhen2.

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

Last Updated: May 16, 2025

ClinVar

Relating variation to medicine