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NM_000157.3(GBA1):c.[1448T>C];[167T>G] AND Gaucher disease type I

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 25, 2015
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:
RCV000225393.10

Allele description [Variation Report for NM_000157.3(GBA1):c.[1448T>C];[167T>G]]

NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)

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>C (p.Leu483Pro)
Other names:
L444P
HGVS:
  • NC_000001.11:g.155235252A>G
  • NG_009783.1:g.14446T>C
  • NG_042867.1:g.1714A>G
  • NM_000157.4:c.1448T>CMANE SELECT
  • NM_001005741.3:c.1448T>C
  • NM_001005742.3:c.1448T>C
  • NM_001171811.2:c.1187T>C
  • NM_001171812.2:c.1301T>C
  • NP_000148.2:p.Leu483Pro
  • NP_001005741.1:p.Leu483Pro
  • NP_001005741.1:p.Leu483Pro
  • NP_001005742.1:p.Leu483Pro
  • NP_001165282.1:p.Leu396Pro
  • NP_001165283.1:p.Leu434Pro
  • NC_000001.10:g.155205043A>G
  • NM_000157.2:c.1448T>C
  • NM_000157.3(GBA):c.1448T>C
  • NM_000157.3:c.1448T>C
  • NM_000157.3:c.[1448T>C]
  • NM_001005741.2:c.1448T>C
  • NM_001005741.3:c.1448T>C
  • NM_001005742.2:c.1448T>C
  • NM_001005742.3:c.1448T>C
  • P04062:p.Leu483Pro
  • c.1448T>C (p.Leu483Pro)
Protein change:
L396P; LEU444PRO
Links:
UniProtKB: P04062#VAR_003321; OMIM: 606463.0001; OMIM: 606463.0009; dbSNP: rs421016
NCBI 1000 Genomes Browser:
rs421016
Molecular consequence:
  • NM_000157.4:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.1448T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.1187T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.1301T>C - missense variant - [Sequence Ontology: SO:0001583]

NM_000157.4(GBA1):c.167T>G (p.Val56Gly)

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.167T>G (p.Val56Gly)
HGVS:
  • NC_000001.11:g.155240026A>C
  • NG_009783.1:g.9672T>G
  • NG_042867.1:g.6488A>C
  • NM_000157.4:c.167T>GMANE SELECT
  • NM_001005741.3:c.167T>G
  • NM_001005742.3:c.167T>G
  • NM_001171811.2:c.-95T>G
  • NM_001171812.2:c.167T>G
  • NP_000148.2:p.Val56Gly
  • NP_001005741.1:p.Val56Gly
  • NP_001005742.1:p.Val56Gly
  • NP_001165283.1:p.Val56Gly
  • NC_000001.10:g.155209817A>C
  • NM_000157.3:c.167T>G
Protein change:
V56G
Links:
dbSNP: rs878853318
NCBI 1000 Genomes Browser:
rs878853318
Molecular consequence:
  • NM_001171811.2:c.-95T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000157.4:c.167T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.167T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.167T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.167T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Gaucher disease type I (GD1)
Synonyms:
GBA DEFICIENCY; GD I; Gaucher's disease, type 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009265; MedGen: C1961835; Orphanet: 355; Orphanet: 77259; OMIM: 230800

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000282509Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics
no assertion criteria provided
Likely pathogenic
(Sep 25, 2015) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Indiangermlineyes2not providednot provided2not providedresearch

Details of each submission

From Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics, SCV000282509.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Indian1not providednot providedresearchnot provided

Description

Variantc.167T>G/p.V56G (ENST00000368373) was found to be pathogenic by online software like Mutation Taster, SIFT and Polyphen-2.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1Bloodnot provided1not providednot providednot provided

Last Updated: May 26, 2024