NM_000027.4(AGA):c.281+12_281+13delinsAG AND Aspartylglucosaminuria

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 19, 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:
RCV002779993.2

Allele description [Variation Report for NM_000027.4(AGA):c.281+12_281+13delinsAG]

NM_000027.4(AGA):c.281+12_281+13delinsAG

Gene:
AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
4q34.3
Genomic location:
Preferred name:
NM_000027.4(AGA):c.281+12_281+13delinsAG
HGVS:
  • NC_000004.12:g.177440260_177440261delinsCT
  • NG_011845.2:g.7243_7244delinsAG
  • NM_000027.4:c.281+12_281+13delinsAGMANE SELECT
  • NM_001171988.2:c.281+12_281+13delinsAG
  • NC_000004.11:g.178361414_178361415delinsCT
Molecular consequence:
  • NM_000027.4:c.281+12_281+13delinsAG - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001171988.2:c.281+12_281+13delinsAG - intron variant - [Sequence Ontology: SO:0001627]

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003027372Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Apr 19, 2022) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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 Invitae, SCV003027372.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant has not been reported in the literature in individuals affected with AGA-related conditions. This sequence change falls in intron 2 of the AGA gene. It does not directly change the encoded amino acid sequence of the AGA protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 28, 2024