NM_000642.3(AGL):c.82+16_82+20del AND Glycogen storage disease type III

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jan 30, 2024
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:: RCV003518235.1

Allele description

NM_000642.3(AGL):c.82+16_82+20del

Gene:

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

Variant type:

Deletion

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.82+16_82+20del

HGVS:

NC_000001.11:g.99851140_99851144del
NG_012865.1:g.6057_6061del
NG_091707.1:g.759_763del
NM_000028.3:c.82+16_82+20del
NM_000642.3:c.82+16_82+20delMANE SELECT
NM_000643.3:c.82+16_82+20del
NM_000644.3:c.82+16_82+20del
NM_000646.3:c.-110+16_-110+20del
NM_001425325.1:c.82+16_82+20del
NM_001425326.1:c.82+16_82+20del
NM_001425327.1:c.82+16_82+20del
NM_001425328.1:c.82+16_82+20del
NM_001425329.1:c.82+16_82+20del
NM_001425332.1:c.82+16_82+20del
NC_000001.10:g.100316693_100316697del
NC_000001.10:g.100316696_100316700del

Molecular consequence:

NM_000028.3:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_000642.3:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_000643.3:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_000644.3:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_000646.3:c.-110+16_-110+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425325.1:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425326.1:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425327.1:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425328.1:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425329.1:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]
NM_001425332.1:c.82+16_82+20del - intron variant - [Sequence Ontology: SO:0001627]

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
SCV004269256	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jan 30, 2024)	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

SCV004269256

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jan 30, 2024)

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

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, SCV004269256.1

#	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: Sep 1, 2024

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