NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter) AND Glycogen storage disease type III

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Mar 7, 2020
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:: RCV001264292.4

Allele description [Variation Report for NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)]

NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.3793G>T (p.Glu1265Ter)

HGVS:

NC_000001.11:g.99910804G>T
NG_012865.1:g.65721G>T
NM_000028.3:c.3793G>T
NM_000642.3:c.3793G>TMANE SELECT
NM_000643.3:c.3793G>T
NM_000644.3:c.3793G>T
NM_000646.3:c.3745G>T
NM_001425325.1:c.3793G>T
NM_001425326.1:c.3772G>T
NM_001425327.1:c.3592G>T
NM_001425328.1:c.3589G>T
NM_001425329.1:c.3454G>T
NM_001425332.1:c.3415G>T
NP_000019.2:p.Glu1265Ter
NP_000019.2:p.Glu1265Ter
NP_000633.2:p.Glu1265Ter
NP_000634.2:p.Glu1265Ter
NP_000634.2:p.Glu1265Ter
NP_000635.2:p.Glu1265Ter
NP_000635.2:p.Glu1265Ter
NP_000637.2:p.Glu1249Ter
NP_000637.2:p.Glu1249Ter
NP_001412254.1:p.Glu1265Ter
NP_001412255.1:p.Glu1258Ter
NP_001412256.1:p.Glu1198Ter
NP_001412257.1:p.Glu1197Ter
NP_001412258.1:p.Glu1152Ter
NP_001412261.1:p.Glu1139Ter
NC_000001.10:g.100376360G>T
NM_000028.2:c.3793G>T
NM_000643.2:c.3793G>T
NM_000644.2:c.3793G>T
NM_000646.2:c.3745G>T

Protein change:

E1139*

Links:

dbSNP: rs1654695322

NCBI 1000 Genomes Browser:

rs1654695322

Molecular consequence:

NM_000028.3:c.3793G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_000642.3:c.3793G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_000643.3:c.3793G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_000644.3:c.3793G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_000646.3:c.3745G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001425325.1:c.3793G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001425326.1:c.3772G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001425327.1:c.3592G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001425328.1:c.3589G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001425329.1:c.3454G>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001425332.1:c.3415G>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Glycogen storage disease type III (GSD3)
Synonyms:: Glycogen storage disease type 3; Forbes disease; Cori disease; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0009291; MedGen: C0017922; Orphanet: 366; OMIM: 232400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001442395	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))	Likely pathogenic (Mar 7, 2020)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001442395

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Women's Health Autosomal Recessive and X-Linked Classification Criteria (2019))

Likely pathogenic
(Mar 7, 2020)

unknown

clinical testing

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 Myriad Genetics, Inc., SCV001442395.1

#	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: May 7, 2024

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