NM_000157.4(GBA1):c.222_224del (p.Thr75del) AND GBA1-related disorder

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 17, 2024
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:: RCV004698849.1

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:: GBA1-related disorder
Synonyms:: GBA1-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005200932	Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Apr 17, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005200932

Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Apr 17, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	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 Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center, SCV005200932.1

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

Description

PS3_Moderate, PM2, PM3_Strong, PM4

#	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		not provided	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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