U.S. flag

An official website of the United States government

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001366382Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jan 1, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 20, 2024