NM_002074.5(GNB1):c.301A>G (p.Met101Val) AND multiple conditions

Clinical significance:Pathogenic (Last evaluated: Feb 10, 2016)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000210283.1

Allele description [Variation Report for NM_002074.5(GNB1):c.301A>G (p.Met101Val)]

NM_002074.5(GNB1):c.301A>G (p.Met101Val)

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.301A>G (p.Met101Val)
HGVS:
  • NC_000001.11:g.1804548T>C
  • NG_047052.1:g.91570A>G
  • NM_001282538.2:c.1A>G
  • NM_001282539.2:c.301A>G
  • NM_002074.5:c.301A>GMANE SELECT
  • NP_001269467.1:p.Met1Val
  • NP_001269468.1:p.Met101Val
  • NP_002065.1:p.Met101Val
  • NC_000001.10:g.1735987T>C
  • NM_002074.3:c.301A>G
  • NM_002074.4:c.301A>G
  • P62873:p.Met101Val
Protein change:
M101V; MET101VAL
Links:
UniProtKB: P62873#VAR_076650; OMIM: 139380.0005; dbSNP: rs869312825
NCBI 1000 Genomes Browser:
rs869312825
Molecular consequence:
  • NM_001282538.2:c.1A>G - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001282538.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282539.2:c.301A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002074.5:c.301A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Global developmental delay (DD)
Synonyms:
Cognitive delay; Delayed cognitive development; Delayed development; See all synonyms [MedGen]
Identifiers:
MedGen: C0557874; Human Phenotype Ontology: HP:0001263
Name:
Expressive language delay
Synonyms:
Deficit in expressive language; Communication delay
Identifiers:
MedGen: C0454641; Human Phenotype Ontology: HP:0002474
Name:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Focal seizures with impairment of consciousness or awareness
Synonyms:
Complex focal seizures; Dyscognitive seizures; Complex partial seizures
Identifiers:
MedGen: C0270834; Human Phenotype Ontology: HP:0002384
Name:
Intellectual disability
Synonyms:
Dull intelligence; Low intelligence; Mental deficiency; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0001071; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Generalized tonic-clonic seizures
Synonyms:
Generalised tonic-clonic seizures; Grand mal seizures; Seizures, tonic-clonic; See all synonyms [MedGen]
Identifiers:
MedGen: C0494475; Human Phenotype Ontology: HP:0002069
Name:
Developmental regression
Synonyms:
Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; See all synonyms [MedGen]
Identifiers:
MedGen: C1836830; Human Phenotype Ontology: HP:0002376
Name:
Multifocal epileptiform discharges
Synonyms:
Multifocal EEG abnormality
Identifiers:
MedGen: C4021219; Human Phenotype Ontology: HP:0010841
Name:
EEG with generalized epileptiform discharges
Identifiers:
MedGen: C4023476; Human Phenotype Ontology: HP:0011198
Name:
Muscular hypotonia
Synonyms:
Muscle hypotonia
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000266339Institute for Genomic Medicine, Columbia University,Columbia University Medical Centerno assertion criteria providedPathogenic
(Feb 10, 2016)
de novoresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes2not 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 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center, SCV000266339.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Sep 29, 2021

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