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NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) AND multiple conditions

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
May 5, 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:
RCV000755055.5

Allele description [Variation Report for NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)]

NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)

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.239T>C (p.Ile80Thr)
Other names:
NM_002074.5(GNB1):c.239T>C
HGVS:
  • NC_000001.11:g.1806503A>G
  • NG_047052.1:g.89615T>C
  • NM_001282538.2:c.-62T>C
  • NM_001282539.2:c.239T>C
  • NM_002074.5:c.239T>CMANE SELECT
  • NP_001269468.1:p.Ile80Thr
  • NP_001269468.1:p.Ile80Thr
  • NP_002065.1:p.Ile80Thr
  • NC_000001.10:g.1737942A>G
  • NM_001282539.1:c.239T>C
  • NM_002074.3:c.239T>C
  • NM_002074.4:c.239T>C
  • P62873:p.Ile80Thr
Protein change:
I80T; ILE80THR
Links:
UniProtKB: P62873#VAR_076648; OMIM: 139380.0002; dbSNP: rs752746786
NCBI 1000 Genomes Browser:
rs752746786
Molecular consequence:
  • NM_001282538.2:c.-62T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001282539.2:c.239T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002074.5:c.239T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on protein interaction [Variation Ontology: 0058]

Condition(s)

Name:
Seizure
Synonyms:
Seizures
Identifiers:
MedGen: C0036572; Human Phenotype Ontology: HP:0001250
Name:
Hypotonia
Synonyms:
Muscular hypotonia; poor muscle tone
Identifiers:
MedGen: C0026827; Human Phenotype Ontology: HP:0001252
Name:
Neurodevelopmental Disability
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000882871University of Washington Center for Mendelian Genomics, University of Washington
no assertion criteria provided
Likely pathogenic
(May 5, 2016) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes3not 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, SCV000882871.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided3not providednot providednot provided

Last Updated: May 12, 2024