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NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) AND Gaucher disease type I

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 1992
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:
RCV000004537.13

Allele description [Variation Report for NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)]

NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)

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.764T>A (p.Phe255Tyr)
Other names:
F216Y
HGVS:
  • NC_000001.11:g.155237576A>T
  • NG_009783.1:g.12122T>A
  • NG_042867.1:g.4038A>T
  • NM_000157.4:c.764T>AMANE SELECT
  • NM_001005741.3:c.764T>A
  • NM_001005742.3:c.764T>A
  • NM_001171811.2:c.503T>A
  • NM_001171812.2:c.617T>A
  • NP_000148.2:p.Phe255Tyr
  • NP_001005741.1:p.Phe255Tyr
  • NP_001005742.1:p.Phe255Tyr
  • NP_001165282.1:p.Phe168Tyr
  • NP_001165283.1:p.Phe206Tyr
  • NC_000001.10:g.155207367A>T
  • NM_001005741.2(GBA):c.764T>A
  • NM_001005741.2:c.764T>A
  • NM_001005741.3:c.764T>A
  • P04062:p.Phe255Tyr
Protein change:
F168Y; PHE216TYR
Links:
UniProtKB: P04062#VAR_003282; OMIM: 606463.0010; dbSNP: rs74500255
NCBI 1000 Genomes Browser:
rs74500255
Molecular consequence:
  • NM_000157.4:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.764T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171811.2:c.503T>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.617T>A - 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
SCV000024711OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 1992) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in Jewish patients with Gaucher disease.

Beutler E, Gelbart T, Kuhl W, Zimran A, West C.

Blood. 1992 Apr 1;79(7):1662-6.

PubMed [citation]
PMID:
1558964

Details of each submission

From OMIM, SCV000024711.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In an 11-year-old, non-Jewish Caucasian girl with type I Gaucher disease (230800), Beutler and Gelbart (1990) identified a 764T-A transversion in the GBA gene, resulting in a phe216-to-tyr (F216Y) substitution. The patient was heterozygous for this mutation, which came from the father; the presumed abnormality in the other allele was not identified.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 10, 2024