NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 21, 2016
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:: RCV000190738.7

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]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000244179	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Pathogenic (Apr 21, 2016)	germline	clinical testing	PubMed (3) [See all records that cite these PMIDs] 25485910, 27108799, 9596582 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000244179

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Pathogenic
(Apr 21, 2016)

germline

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Caucasian	germline	yes	1	not provided	not provided	1	not provided	clinical testing
Unknown	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Mutations in G protein β subunits promote transformation and kinase inhibitor resistance.

Yoda A, Adelmant G, Tamburini J, Chapuy B, Shindoh N, Yoda Y, Weigert O, Kopp N, Wu SC, Kim SS, Liu H, Tivey T, Christie AL, Elpek KG, Card J, Gritsman K, Gotlib J, Deininger MW, Makishima H, Turley SJ, Javidi-Sharifi N, Maciejewski JP, et al.

Nat Med. 2015 Jan;21(1):71-5. doi: 10.1038/nm.3751. Epub 2014 Dec 8.

PubMed [citation]

PMID:: 25485910
PMCID:: PMC4289115

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

See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000244179.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Caucasian	1	not provided	not provided	clinical testing	PubMed (3)
2	Unknown	1	not provided	not provided	clinical testing	PubMed (3)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: May 12, 2024

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