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

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 4, 2015
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:
RCV000208571.5

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:
Dystonic disorder
Synonyms:
Dystonia
Identifiers:
MONDO: MONDO:0003441; MedGen: C0013421; Human Phenotype Ontology: HP:0001332
Name:
Growth delay
Synonyms:
Growth Retardation
Identifiers:
MedGen: C0456070; Human Phenotype Ontology: HP:0001510
Name:
Hypothyroidism
Identifiers:
MONDO: MONDO:0005420; MedGen: C0020676; Human Phenotype Ontology: HP:0000821
Name:
Intellectual disability
Synonyms:
Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:
MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249
Name:
Infantile axial hypotonia
Identifiers:
MedGen: C3806604; Human Phenotype Ontology: HP:0009062
Name:
Upper limb hypertonia
Identifiers:
MedGen: C4021898; Human Phenotype Ontology: HP:0200049
Name:
Cleft palate
Synonyms:
Cleft hard and soft palate
Identifiers:
MONDO: MONDO:0016064; MedGen: C2981150; Human Phenotype Ontology: HP:0000175

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000263295Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes
no assertion criteria provided
Pathogenic
(Dec 4, 2015) 		de novoresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
de novoyes1not providednot providednot providednot providedresearch

Details of each submission

From Laboratory of Molecular Genetics (Pr. Bezieau's lab), CHU de Nantes, SCV000263295.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided

Description

The same de novo variant was identified in several other patients. De novo variants were also identified in additional patients with a similar phenotype in the four codons upstream. Functional assessment of the variant was reported in PMID:25485910.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: May 12, 2024