NM_000642.3(AGL):c.1999del (p.Gln667fs) AND Glycogen storage disease IIIb

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 31, 2000
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000001163.12

Allele description [Variation Report for NM_000642.3(AGL):c.1999del (p.Gln667fs)]

NM_000642.3(AGL):c.1999del (p.Gln667fs)

Gene:

AGL:amylo-alpha-1,6-glucosidase and 4-alpha-glucanotransferase [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.1999del (p.Gln667fs)

HGVS:

NC_000001.11:g.99881175del
NG_012865.1:g.36092del
NM_000028.3:c.1999delC
NM_000642.3:c.1999delMANE SELECT
NM_000643.3:c.1999delC
NM_000644.3:c.1999delC
NM_000646.3:c.1951delC
NM_001425325.1:c.1999delC
NM_001425326.1:c.1999delC
NM_001425327.1:c.1798delC
NM_001425328.1:c.1795delC
NM_001425329.1:c.1795delC
NM_001425332.1:c.1621delC
NP_000019.2:p.Gln667Argfs
NP_000019.2:p.Gln667fs
NP_000633.2:p.Gln667fs
NP_000634.2:p.Gln667Argfs
NP_000634.2:p.Gln667fs
NP_000635.2:p.Gln667Argfs
NP_000635.2:p.Gln667fs
NP_000637.2:p.Gln651Argfs
NP_000637.2:p.Gln651fs
NP_001412254.1:p.Gln667Argfs
NP_001412255.1:p.Gln667Argfs
NP_001412256.1:p.Gln600Argfs
NP_001412257.1:p.Gln599Argfs
NP_001412258.1:p.Gln599Argfs
NP_001412261.1:p.Gln541Argfs
NC_000001.10:g.100346731del
NM_000028.2:c.1999del
NM_000642.2:c.1999del
NM_000643.2:c.1999del
NM_000644.2:c.1999del
NM_000646.2:c.1951del
NP_000633.2:p.Gln667fs

Protein change:

Q651fs

Links:

OMIM: 610860.0011; dbSNP: rs387906246

NCBI 1000 Genomes Browser:

rs387906246

Molecular consequence:

NM_000028.3:c.1999delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000642.3:c.1999del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000643.3:c.1999delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000644.3:c.1999delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000646.3:c.1951delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425325.1:c.1999delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425326.1:c.1999delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425327.1:c.1798delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425328.1:c.1795delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425329.1:c.1795delC - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425332.1:c.1621delC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Glycogen storage disease IIIb
Identifiers:: MedGen: C1968740

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021313	OMIM	no assertion criteria provided	Pathogenic (Jul 31, 2000)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021313

OMIM

no assertion criteria provided

Pathogenic
(Jul 31, 2000)

germline

literature only

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	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.

Okubo M, Horinishi A, Suzuki Y, Murase T, Hayasaka K.

Am J Med Genet. 2000 Jul 31;93(3):211-4.

PubMed [citation]

PMID:: 10925384

Details of each submission

From OMIM, SCV000021313.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In a 2-year-old patient of mixed Asian ancestry with glycogen storage disease type IIIb (GSD3B; 232400), Okubo et al. (2000) observed compound heterozygosity for 2 mutations in the AGL gene: a deletion of 2399C in exon 16 inherited from the Japanese father, and a G-to-A transition at position +5 at the donor splice site of intron 33 (610860.0012) inherited from the Chinese mother. The girl had been admitted to hospital because of liver dysfunction. Hepatomegaly was first noted at age 4 months. She had experienced occasional hypoglycemia, and growth retardation was noted. Muscular manifestations were not described.

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

Last Updated: Nov 3, 2024

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