NM_000027.3(AGA):c.446C>G (p.Thr149Ser) AND Aspartylglucosaminuria

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jun 14, 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:: RCV000394488.1

Allele description

NM_000027.3(AGA):c.446C>G (p.Thr149Ser)

Gene:

AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q34.3

Genomic location:

Preferred name:

NM_000027.3(AGA):c.446C>G (p.Thr149Ser)

HGVS:

NC_000004.12:g.177438806G>C
NG_011845.2:g.8698C>G
NM_000027.3:c.446C>G
NP_000018.2:p.Thr149Ser
NC_000004.11:g.178359960G>C
NR_033655.1:n.574C>G
P20933:p.Thr149Ser

Protein change:

T149S

Links:

UniProtKB: P20933#VAR_033533; dbSNP: rs2228119

GMAF:

0.0791(G), 2228119

NCBI 1000 Genomes Browser:

rs2228119

Allele Frequency:

0.9253, GO-ESP

Molecular consequence:

NM_000027.3:c.446C>G - missense variant - [Sequence Ontology: SO:0001583]
NR_033655.1:n.574C>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Aspartylglucosaminuria (AGU)
Synonyms:: GLYCOASPARAGINASE; Aspartylglycosaminuria; High urine aspartylglucosamine levels
Identifiers:: MedGen: C0268225; Orphanet: 93; OMIM: 208400; Human Phenotype Ontology: HP:0012068

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000448736	Illumina Clinical Services Laboratory,Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Benign (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000448736

Illumina Clinical Services Laboratory,Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Benign
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV000448736.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 2, 2018

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