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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:
RCV000663363.2

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:
1

Condition(s)

Name:
Gaucher disease type II (GD2)
Synonyms:
GD II; Gaucher disease type 2; GD 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009266; MedGen: C0268250; OMIM: 230900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000786646Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
no assertion criteria provided
Likely pathogenic
(Jun 29, 2018) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indian Hindugermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000786646.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian Hindu1not providednot providedclinical testingnot 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024