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

Clinical significance:Likely pathogenic (Last evaluated: May 5, 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:
RCV000755056.1

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:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
hypotonia
Identifiers:
Name:
Neurodevelopmental Disability
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000882872University of Washington Center for Mendelian Genomics, University of Washingtonno assertion criteria providedLikely pathogenic
(May 5, 2016)
unknownresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes2not 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 University of Washington Center for Mendelian Genomics, University of Washington, SCV000882872.1

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

Last Updated: Sep 29, 2021

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