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NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) AND multiple conditions

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 10, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000210277.1

Allele description [Variation Report for NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)]

NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)

Gene:
GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.33
Genomic location:
Preferred name:
NM_002074.5(GNB1):c.228T>G (p.Asp76Glu)
HGVS:
  • NC_000001.11:g.1806514A>C
  • NG_047052.1:g.89604T>G
  • NM_001282538.2:c.-73T>G
  • NM_001282539.2:c.228T>G
  • NM_002074.5:c.228T>GMANE SELECT
  • NP_001269468.1:p.Asp76Glu
  • NP_002065.1:p.Asp76Glu
  • NC_000001.10:g.1737953A>C
  • NM_002074.4:c.228T>G
  • P62873:p.Asp76Glu
Protein change:
D76E
Links:
UniProtKB: P62873#VAR_076644; dbSNP: rs869312822
NCBI 1000 Genomes Browser:
rs869312822
Molecular consequence:
  • NM_001282538.2:c.-73T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282539.2:c.228T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002074.5:c.228T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Failure to thrive
Synonyms:
Pediatric failure to thrive
Identifiers:
MedGen: C2315100; Human Phenotype Ontology: HP:0001508
Name:
Focal impaired awareness seizure
Synonyms:
Focal seizures with impairment of consciousness or awareness
Identifiers:
MedGen: C0270834; Human Phenotype Ontology: HP:0002384
Name:
Strabismus
Identifiers:
MONDO: MONDO:0003432; MedGen: C0038379; Human Phenotype Ontology: HP:0000486
Name:
Limb hypertonia
Identifiers:
MedGen: C1838391; Human Phenotype Ontology: HP:0002509

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000266333Genomics And Bioinformatics Analysis Resource, Columbia University
no assertion criteria provided
Pathogenic
(Feb 10, 2016) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics., et al.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

PubMed [citation]
PMID:
27108799
PMCID:
PMC4863562

Details of each submission

From Genomics And Bioinformatics Analysis Resource, Columbia University, SCV000266333.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 23, 2023