NM_000642.3(AGL):c.294-8dup AND Glycogen storage disease type III

Germline classification:: Benign (1 submission)
Last evaluated:: Dec 9, 2023
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:: RCV003844468.2

Allele description [Variation Report for NM_000642.3(AGL):c.294-8dup]

NM_000642.3(AGL):c.294-8dup

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.294-8dup

HGVS:

NC_000001.11:g.99862249dup
NG_012865.1:g.17166dup
NM_000028.3:c.294-8dup
NM_000642.3:c.294-8dupMANE SELECT
NM_000643.3:c.294-8dup
NM_000644.3:c.294-8dup
NM_000646.3:c.246-8dup
NM_001425325.1:c.294-8dup
NM_001425326.1:c.294-8dup
NM_001425327.1:c.294-8dup
NM_001425328.1:c.294-8dup
NM_001425329.1:c.294-8dup
NM_001425332.1:c.83-2137dup
NC_000001.10:g.100327799_100327800insT
NC_000001.10:g.100327805dup

Molecular consequence:

NM_000028.3:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000642.3:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000643.3:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000644.3:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_000646.3:c.246-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001425325.1:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001425326.1:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001425327.1:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001425328.1:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001425329.1:c.294-8dup - intron variant - [Sequence Ontology: SO:0001627]
NM_001425332.1:c.83-2137dup - 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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G1P2 (25)
Nucleotide
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficie...
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

MedGen
pol protein, partial [Porcine endogenous retrovirus FPP-1]
pol protein, partial [Porcine endogenous retrovirus FPP-1]
gi|14530211|gb|AAK65954.1|AF163265_

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004648173	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Dec 9, 2023)	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

SCV004648173

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Dec 9, 2023)

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV004648173.1

#	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 29, 2024

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