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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 10, 2021
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001795309.5

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:
Cerebral palsy
Identifiers:
MONDO: MONDO:0006497; MedGen: C0007789; Human Phenotype Ontology: HP:0100021

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001737591Neurogenetics Research Program, University of Adelaide
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Jun 10, 2021) 		unknownresearch

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot provided1not 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Neurogenetics Research Program, University of Adelaide, SCV001737591.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes1not providednot provided1not providednot providednot provided

Last Updated: May 12, 2024