NM_003331.5(TYK2):c.353G>A (p.Arg118Gln) AND not provided

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jul 1, 2018
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:: RCV000761987.23

Allele description [Variation Report for NM_003331.5(TYK2):c.353G>A (p.Arg118Gln)]

NM_003331.5(TYK2):c.353G>A (p.Arg118Gln)

Gene:

TYK2:tyrosine kinase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_003331.5(TYK2):c.353G>A (p.Arg118Gln)

HGVS:

NC_000019.10:g.10368167C>T
NG_007872.1:g.17406G>A
NM_003331.4:c.353G>A
NM_003331.5:c.353G>AMANE SELECT
NP_003322.3:p.Arg118Gln
LRG_121t1:c.353G>A
LRG_121:g.17406G>A
NC_000019.9:g.10478843C>T

Protein change:

R118Q

Links:

dbSNP: rs369530676

NCBI 1000 Genomes Browser:

rs369530676

Molecular consequence:

NM_003331.5:c.353G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Hypoglycemia
Hypoglycemia
A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVO...<br/>

MeSH
D007003 (1)
MeSH
St3gal6 [Cricetulus griseus]
St3gal6 [Cricetulus griseus]
Gene ID:100771326

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000892216	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Jul 1, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000892216

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Jul 1, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV000892216.28

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

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

Last Updated: Oct 20, 2024

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