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

Germline classification:
Likely pathogenic (1 submission)
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:
RCV001004126.9

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
Name:
Gaucher disease type II (GD2)
Synonyms:
GD II; Gaucher disease type 2; GD 2; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009266; MedGen: C0268250; OMIM: 230900
Name:
Gaucher disease type III
Synonyms:
GD III; GD 3; Gaucher disease, juvenile and adult, cerebral; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009267; MedGen: C0268251; Orphanet: 355; Orphanet: 77261; OMIM: 231000
Name:
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Synonyms:
GAUCHER DISEASE, TYPE IIIC; Gaucher disease type 3C
Identifiers:
MONDO: MONDO:0009268; MedGen: C1856476; OMIM: 231005

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001162857Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot 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 Baylor Genetics, SCV001162857.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024