NM_000157.4(GBA1):c.222_224del (p.Thr75del) AND Lewy body dementia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 4, 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:: RCV002249507.1

Allele description [Variation Report for NM_000157.4(GBA1):c.222_224del (p.Thr75del)]

NM_000157.4(GBA1):c.222_224del (p.Thr75del)

Genes:

LOC106627981:GBA recombination region [Gene]
GBA1:glucosylceramidase beta 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1q22

Genomic location:

Preferred name:

NM_000157.4(GBA1):c.222_224del (p.Thr75del)

Other names:

p.Thr75del

HGVS:

NC_000001.11:g.155239969_155239971del
NG_009783.1:g.9727_9729del
NG_042867.1:g.6431_6433del
NM_000157.4:c.222_224delMANE SELECT
NM_001005741.3:c.222_224del
NM_001005742.3:c.222_224del
NM_001171811.2:c.-40_-38del
NM_001171812.2:c.222_224del
NP_000148.2:p.Thr75del
NP_001005741.1:p.Thr75del
NP_001005742.1:p.Thr75del
NP_001165283.1:p.Thr75del
NC_000001.10:g.155209760_155209762del
NC_000001.10:g.155209760_155209762delGTA
NC_000001.11:g.155239969_155239971delGTA
NM_000157.4:c.222_224del
NM_001005741.2:c.222_224del
NM_001005741.2:c.222_224delTAC

Protein change:

T75del

Links:

dbSNP: rs761621516

NCBI 1000 Genomes Browser:

rs761621516

Molecular consequence:

NM_001171811.2:c.-40_-38del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000157.4:c.222_224del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001005741.3:c.222_224del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001005742.3:c.222_224del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001171812.2:c.222_224del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

Recent activity

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protein LNK1 isoform X2 [Oryza sativa Japonica Group]
protein LNK1 isoform X2 [Oryza sativa Japonica Group]
gi|1002254202|ref|XP_015631353.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002516450	Mendelics	criteria provided, single submitter (Mendelics Assertion Criteria 2019)	Pathogenic (May 4, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002516450

Mendelics

criteria provided, single submitter

(Mendelics Assertion Criteria 2019)

Pathogenic
(May 4, 2022)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Mendelics, SCV002516450.1

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

Last Updated: Oct 8, 2024

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