NM_000157.4(GBA1):c.1224G>A (p.Thr408=) AND not provided

This record was updated by the submitter. Please see the current version.

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Jul 1, 2024
Review status:: criteria provided, conflicting classifications

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:: RCV000599326.23

Allele description

NM_000157.4(GBA1):c.1224G>A (p.Thr408=)

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.1224G>A (p.Thr408=)

HGVS:

NC_000001.11:g.155236245C>T
NG_009783.1:g.13453G>A
NG_042867.1:g.2707C>T
NM_000157.4:c.1224G>AMANE SELECT
NM_001005741.3:c.1224G>A
NM_001005742.3:c.1224G>A
NM_001171811.2:c.963G>A
NM_001171812.2:c.1077G>A
NP_000148.2:p.Thr408=
NP_001005741.1:p.Thr408=
NP_001005742.1:p.Thr408=
NP_001165282.1:p.Thr321=
NP_001165283.1:p.Thr359=
NC_000001.10:g.155206036C>T
NM_001005741.2:c.1224G>A

Links:

dbSNP: rs138498426

NCBI 1000 Genomes Browser:

rs138498426

Molecular consequence:

NM_000157.4:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001005741.3:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001005742.3:c.1224G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001171811.2:c.963G>A - synonymous variant - [Sequence Ontology: SO:0001819]
NM_001171812.2:c.1077G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000710023	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 27, 2019)	germline	clinical testing	Citation Link,
SCV001247921	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000710023

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 27, 2019)

germline

clinical testing

Citation Link,

SCV001247921

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jul 1, 2024)

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	6	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000710023.2

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

Description

In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown; Has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge, however, it has been reported via GBA sequencing in a healthy control subject participating in a Parkinson disease study (Jesus et al., 2016); This variant is associated with the following publications: (PMID: 28030538, 32618053)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001247921.24

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	6	not provided	not provided	clinical testing	not provided

Description

GBA1: BP4, BP7

#	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		6	not provided	not provided	not provided

Last Updated: Aug 11, 2024

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