U.S. flag

An official website of the United States government

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

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001004111.1

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]

Condition(s)

Name:
Gaucher disease type I (GD1)
Synonyms:
ACID BETA-GLUCOSIDASE DEFICIENCY; GAUCHER DISEASE, NONCEREBRAL JUVENILE; GBA DEFICIENCY; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009265; MedGen: C1961835; Orphanet: 355; Orphanet: 77259; OMIM: 230800
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
Name:
Gaucher disease type III
Synonyms:
GAUCHER DISEASE, CHRONIC NEURONOPATHIC TYPE; GAUCHER DISEASE, JUVENILE AND ADULT, CEREBRAL; GAUCHER DISEASE, SUBACUTE NEURONOPATHIC TYPE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009267; MedGen: C0268251; Orphanet: 355; Orphanet: 77261; OMIM: 231000
Name:
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Synonyms:
GAUCHER DISEASE, TYPE IIIC
Identifiers:
MONDO: MONDO:0009268; MedGen: C1856476; OMIM: 231005

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001162842Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Baylor Genetics, SCV001162842.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025