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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2016
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:: RCV001195955.10

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 perinatal lethal
Synonyms:: Gaucher disease collodion type; Gaucher disease, perinatal-lethal form
Identifiers:: MONDO: MONDO:0011945; MedGen: C1842704; OMIM: 608013

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001366382	Centre for Mendelian Genomics, University Medical Centre Ljubljana	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2016)	unknown	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

SCV001366382

Centre for Mendelian Genomics, University Medical Centre Ljubljana

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2016)

unknown

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	unknown	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 Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001366382.2

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

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM3,PS3,PP5.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 24, 2024

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