NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) AND Global developmental delay

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 2019
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:: RCV001255414.5

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:: Global developmental delay (DD)
Identifiers:: MedGen: C0557874; Human Phenotype Ontology: HP:0001263

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001431814	Génétique des Maladies du Développement, Hospices Civils de Lyon	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2019)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001431814

Génétique des Maladies du Développement, Hospices Civils de Lyon

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2019)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Investigation of fluoroethylene carbonate effects on tin-based lithium-ion battery electrodes.

Yang Z, Gewirth AA, Trahey L.

ACS Appl Mater Interfaces. 2015 Apr 1;7(12):6557-66. doi: 10.1021/am508593s. Epub 2015 Mar 20.

PubMed [citation]

PMID:: 25741901

Details of each submission

From Génétique des Maladies du Développement, Hospices Civils de Lyon, SCV001431814.1

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

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

Last Updated: Apr 20, 2024

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