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NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2022
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:
RCV002479164.2

Allele description [Variation Report for NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)]

NM_000157.4(GBA1):c.247C>T (p.Arg83Cys)

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.247C>T (p.Arg83Cys)
HGVS:
  • NC_000001.11:g.155239946G>A
  • NG_009783.1:g.9752C>T
  • NG_042867.1:g.6408G>A
  • NM_000157.4:c.247C>TMANE SELECT
  • NM_001005741.3:c.247C>T
  • NM_001005742.3:c.247C>T
  • NM_001171811.2:c.-15C>T
  • NM_001171812.2:c.247C>T
  • NP_000148.2:p.Arg83Cys
  • NP_001005741.1:p.Arg83Cys
  • NP_001005742.1:p.Arg83Cys
  • NP_001165283.1:p.Arg83Cys
  • NC_000001.10:g.155209737G>A
  • NM_001005741.2:c.247C>T
  • NM_001005741.3:c.247C>T
Protein change:
R83C
Links:
dbSNP: rs1141812
NCBI 1000 Genomes Browser:
rs1141812
Molecular consequence:
  • NM_001171811.2:c.-15C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000157.4:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005741.3:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001005742.3:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171812.2:c.247C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Lewy body dementia (DLB)
Synonyms:
Diffuse Lewy body disease; Autosomal dominant diffuse Lewy body disease; Lewy Body Disease
Identifiers:
MONDO: MONDO:0007488; MedGen: C0752347; OMIM: 127750
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
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
Name:
Gaucher disease type III
Synonyms:
GD III; GD 3; Gaucher disease, juvenile and adult, cerebral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009267; MedGen: C0268251; Orphanet: 355; Orphanet: 77261; OMIM: 231000
Name:
Gaucher disease perinatal lethal
Synonyms:
Gaucher disease collodion type; Gaucher disease, perinatal-lethal form
Identifiers:
MONDO: MONDO:0011945; MedGen: C1842704; OMIM: 608013
Name:
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Synonyms:
GAUCHER DISEASE, TYPE IIIC; Gaucher disease type 3C
Identifiers:
MONDO: MONDO:0009268; MedGen: C1856476; OMIM: 231005
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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002782471Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(May 3, 2022) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot 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 Fulgent Genetics, Fulgent Genetics, SCV002782471.1

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

Last Updated: Oct 20, 2024