NM_000027.4(AGA):c.70del (p.Ser24fs) AND Aspartylglucosaminuria

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 13, 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:: RCV000409106.2

Allele description [Variation Report for NM_000027.4(AGA):c.70del (p.Ser24fs)]

NM_000027.4(AGA):c.70del (p.Ser24fs)

Genes:

AGA-DT:AGA divergent transcript [Gene - HGNC]
AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

4q34.3

Genomic location:

Preferred name:

NM_000027.4(AGA):c.70del (p.Ser24fs)

HGVS:

NC_000004.12:g.177442306del
NG_011845.2:g.5198del
NM_000027.4:c.70delMANE SELECT
NM_001171988.2:c.70del
NP_000018.2:p.Ser24fs
NP_001165459.1:p.Ser24fs
NC_000004.11:g.178363460del
NM_000027.3:c.70delT
NR_033655.2:n.132del

Protein change:

S24fs

Links:

dbSNP: rs1057517239

NCBI 1000 Genomes Browser:

rs1057517239

Molecular consequence:

NM_000027.4:c.70del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001171988.2:c.70del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_033655.2:n.132del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000486965	Counsyl	criteria provided, single submitter (Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))	Likely pathogenic (Sep 13, 2016)	unknown	clinical testing	mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000486965

Counsyl

criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))

Likely pathogenic
(Sep 13, 2016)

unknown

clinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486965.2

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2022

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