NM_002074.5(GNB1):c.229G>A (p.Gly77Ser) 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:
RCV000210256.1

Allele description [Variation Report for NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)]

NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)

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.229G>A (p.Gly77Ser)
HGVS:
  • NC_000001.11:g.1806513C>T
  • NG_047052.1:g.89605G>A
  • NM_001282538.2:c.-72G>A
  • NM_001282539.1:c.229G>A
  • NM_001282539.2:c.229G>A
  • NM_002074.5:c.229G>AMANE SELECT
  • NP_001269468.1:p.Gly77Ser
  • NP_001269468.1:p.Gly77Ser
  • NP_002065.1:p.Gly77Ser
  • NC_000001.10:g.1737952C>T
  • NC_000001.10:g.1737952C>T
  • NM_002074.3:c.229G>A
  • NM_002074.4:c.229G>A
  • P62873:p.Gly77Ser
Protein change:
G77S
Links:
UniProtKB: P62873#VAR_076645; dbSNP: rs758432471
NCBI 1000 Genomes Browser:
rs758432471
Molecular consequence:
  • NM_001282538.2:c.-72G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282539.1:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282539.2:c.229G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002074.5:c.229G>A - 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:
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
SCV000266334Institute 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 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 Institute for Genomic Medicine, Columbia University,Columbia University Medical Center, SCV000266334.1

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

Last Updated: Oct 24, 2021

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