NM_000642.3(AGL):c.1113dup (p.Asn372Ter) AND Glycogen storage disease type III

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 30, 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:: RCV003145706.3

Allele description [Variation Report for NM_000642.3(AGL):c.1113dup (p.Asn372Ter)]

NM_000642.3(AGL):c.1113dup (p.Asn372Ter)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.1113dup (p.Asn372Ter)

HGVS:

NC_000001.11:g.99875184dup
NG_012865.1:g.30101dup
NM_000028.3:c.1113dup
NM_000642.3:c.1113dupMANE SELECT
NM_000643.3:c.1113dup
NM_000644.3:c.1113dup
NM_000646.3:c.1065dup
NM_001425325.1:c.1113dup
NM_001425326.1:c.1113dup
NM_001425328.1:c.909dup
NM_001425329.1:c.909dup
NM_001425332.1:c.735dup
NP_000019.2:p.Asn372Ter
NP_000019.2:p.Asn372Terfs
NP_000633.2:p.Asn372Ter
NP_000634.2:p.Asn372Ter
NP_000634.2:p.Asn372Terfs
NP_000635.2:p.Asn372Ter
NP_000635.2:p.Asn372Terfs
NP_000637.2:p.Asn356Ter
NP_000637.2:p.Asn356Terfs
NP_001412254.1:p.Asn372Terfs
NP_001412255.1:p.Asn372Terfs
NP_001412257.1:p.Asn304Terfs
NP_001412258.1:p.Asn304Terfs
NP_001412261.1:p.Asn246Terfs
NC_000001.10:g.100340740dup
NM_000028.2:c.1113dup
NM_000643.2:c.1113dup
NM_000644.2:c.1113dup
NM_000646.2:c.1065dup

Protein change:

N356*

Molecular consequence:

NM_000028.3:c.1113dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000643.3:c.1113dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000644.3:c.1113dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000646.3:c.1065dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425325.1:c.1113dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425326.1:c.1113dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425328.1:c.909dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425329.1:c.909dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425332.1:c.735dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000028.3:c.1113dup - nonsense - [Sequence Ontology: SO:0001587]
NM_000642.3:c.1113dup - nonsense - [Sequence Ontology: SO:0001587]
NM_000643.3:c.1113dup - nonsense - [Sequence Ontology: SO:0001587]
NM_000644.3:c.1113dup - nonsense - [Sequence Ontology: SO:0001587]
NM_000646.3:c.1065dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001425325.1:c.1113dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001425326.1:c.1113dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001425328.1:c.909dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001425329.1:c.909dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001425332.1:c.735dup - 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

Recent activity

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MULTISPECIES: NUDIX hydrolase [Caldicellulosiruptor]
MULTISPECIES: NUDIX hydrolase [Caldicellulosiruptor]
gi|503169078|ref|WP_013403739.1|

Protein
4-alpha-glucanotransferase [Corynebacterium ulcerans]
4-alpha-glucanotransferase [Corynebacterium ulcerans]
gi|503677912|ref|WP_013911988.1|

Protein
MULTISPECIES: hypothetical protein [Burkholderia cepacia complex]
MULTISPECIES: hypothetical protein [Burkholderia cepacia complex]
gi|501300093|ref|WP_012339707.1|

Protein
Nramp family divalent metal transporter [Chamaesiphon minutus]
Nramp family divalent metal transporter [Chamaesiphon minutus]
gi|504972139|ref|WP_015159241.1|

Protein
hypothetical protein HMPREF3134_03485 [Staphylococcus sp. HMSC14D10]
hypothetical protein HMPREF3134_03485 [Staphylococcus sp. HMSC14D10]
gi|1081393685|gb|OFV30245.1||gnl|WG M|HMPREF3134_03485

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003833438	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Aug 30, 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

SCV003833438

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Aug 30, 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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Revvity Omics, Revvity, SCV003833438.2

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

#	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: Mar 16, 2024

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