NM_000027.4(AGA):c.545A>G (p.Tyr182Cys) AND Aspartylglucosaminuria

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 18, 2022
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:: RCV002654601.2

Allele description [Variation Report for NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)]

NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)

Gene:

AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q34.3

Genomic location:

Preferred name:

NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)

HGVS:

NC_000004.12:g.177437482T>C
NG_011845.2:g.10022A>G
NM_000027.4:c.545A>GMANE SELECT
NM_001171988.2:c.545A>G
NP_000018.2:p.Tyr182Cys
NP_001165459.1:p.Tyr182Cys
NC_000004.11:g.178358636T>C
NR_033655.2:n.607A>G

Protein change:

Y182C

Molecular consequence:

NM_000027.4:c.545A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001171988.2:c.545A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_033655.2:n.607A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Aspartylglucosaminuria (AGU)
Synonyms:: GLYCOASPARAGINASE; Aspartylglycosaminuria; Aspartylglucos-aminuria; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0008830; MedGen: C0268225; Orphanet: 93; OMIM: 208400; Human Phenotype Ontology: HP:0012068

Recent activity

Clear Turn Off Turn On

Homo sapiens solute carrier family 16 (monocarboxylic acid transporters), member...
Homo sapiens solute carrier family 16 (monocarboxylic acid transporters), member 7 (SLC16A7), mRNA
gi|24431957|ref|NM_004731.2|

Nucleotide
Syzygium maire internal transcribed spacer 1, 5.8S ribosomal RNA gene, and inter...
Syzygium maire internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence
gi|116805425|gb|EF026632.1|

Nucleotide
NADH dehydrogenase subunit I (chloroplast) [Sinocrassula densirosulata]
NADH dehydrogenase subunit I (chloroplast) [Sinocrassula densirosulata]
gi|1959383675|gb|QQW47481.1|

Protein
Mus musculus RIKEN cDNA 2500003M10 gene, mRNA (cDNA clone IMAGE:30243401), parti...
Mus musculus RIKEN cDNA 2500003M10 gene, mRNA (cDNA clone IMAGE:30243401), partial cds
gi|82696999|gb|BC108396.1|

Nucleotide
Same Parent, Any Tautomer for PubChem Compound (Select 57524298) (1)
PubChem Compound

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003520892	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 18, 2022)	germline	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

SCV003520892

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 18, 2022)

germline

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	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV003520892.1

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

Description

This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 182 of the AGA protein (p.Tyr182Cys). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with AGA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

ClinVar

Relating variation to medicine