NM_000157.4(GBA1):c.882T>G (p.His294Gln) AND Gaucher disease type I

Germline classification:: Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:: Sep 28, 2022
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:: RCV001329068.15

Allele description [Variation Report for NM_000157.4(GBA1):c.882T>G (p.His294Gln)]

NM_000157.4(GBA1):c.882T>G (p.His294Gln)

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.882T>G (p.His294Gln)

Other names:

H255Q

HGVS:

NC_000001.11:g.155237458A>C
NG_009783.1:g.12240T>G
NG_042867.1:g.3920A>C
NM_000157.4:c.882T>GMANE SELECT
NM_001005741.2(GBA):c.882T>G
NM_001005741.3:c.882T>G
NM_001005742.3:c.882T>G
NM_001171811.2:c.621T>G
NM_001171812.2:c.735T>G
NP_000148.2:p.His294Gln
NP_001005741.1:p.His294Gln
NP_001005741.1:p.His294Gln
NP_001005742.1:p.His294Gln
NP_001165282.1:p.His207Gln
NP_001165283.1:p.His245Gln
NC_000001.10:g.155207249A>C
NM_000157.3:c.882T>G
NM_000157.4:c.882T>G
NM_001005741.2(GBA):c.882T>G
NM_001005741.2:c.882T>G
NM_001005741.3:c.882T>G
NM_001005742.2:c.882T>G
NM_001005742.3:c.882T>G
P04062:p.His294Gln

Protein change:

H207Q; HIS255GLN

Links:

UniProtKB: P04062#VAR_009040; OMIM: 606463.0047; dbSNP: rs367968666

NCBI 1000 Genomes Browser:

rs367968666

Molecular consequence:

NM_000157.4:c.882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005741.3:c.882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001005742.3:c.882T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171811.2:c.621T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171812.2:c.735T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Recent activity

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LOC9269493 [Oryza sativa Japonica Group]
LOC9269493 [Oryza sativa Japonica Group]
Gene ID:9269493

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001520377	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV001737355	Genome-Nilou Lab	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Jun 10, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV004013957	Laboratory of Medical Genetics, National & Kapodistrian University of Athens	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Sep 28, 2022)	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

SCV001520377

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance

unknown

clinical testing

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

SCV001737355

Genome-Nilou Lab

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Jun 10, 2021)

germline

clinical testing

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

SCV004013957

Laboratory of Medical Genetics, National & Kapodistrian University of Athens

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Sep 28, 2022)

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
not provided	germline	no	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	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 Baylor Genetics, SCV001520377.3

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Genome-Nilou Lab, SCV001737355.1

#	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	germline	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

From Laboratory of Medical Genetics, National & Kapodistrian University of Athens, SCV004013957.1

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

Description

PS1, PM1, PM2, PP2, PP5

#	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: Nov 10, 2024

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