NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) AND Parkinson disease, late-onset

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Oct 29, 2020
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001705580.16

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]

Observations:

Condition(s)

Name:: Parkinson disease, late-onset (PD)
Synonyms:: Parkinson's disease; PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO; Susceptibility to Parkinson's Disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008199; MedGen: C3160718; OMIM: 168600

Recent activity

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PREDICTED: Mus musculus mitochondrial calcium uptake 1 (Micu1), transcript varia...
PREDICTED: Mus musculus mitochondrial calcium uptake 1 (Micu1), transcript variant X1, mRNA
gi|1907074496|ref|XM_036155734.1|

Nucleotide
rrn16 [Plantago rupicola]
rrn16 [Plantago rupicola]
Gene ID:89913008

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001934283	Institute of Human Genetics, University of Leipzig Medical Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Oct 29, 2020)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002764720	Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München	criteria provided, single submitter (Classification criteria August 2017)	Pathogenic (Sep 29, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001934283

Institute of Human Genetics, University of Leipzig Medical Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Oct 29, 2020)

unknown

clinical testing

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

SCV002764720

Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

criteria provided, single submitter

(Classification criteria August 2017)

Pathogenic
(Sep 29, 2020)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	clinical 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 Institute of Human Genetics, University of Leipzig Medical Center, SCV001934283.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV002764720.1

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

#	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: Nov 10, 2024

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