NM_000642.3(AGL):c.306TGG[1] (p.Gly105del) AND Glycogen storage disease type III

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 30, 2021
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:: RCV001247340.5

Allele description [Variation Report for NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)]

NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

1p21.2

Genomic location:

Preferred name:

NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)

HGVS:

NC_000001.11:g.99862269TGG[1]
NG_012865.1:g.17186TGG[1]
NM_000028.3:c.306_308TGG[1]
NM_000642.3:c.306TGG[1]MANE SELECT
NM_000643.3:c.306_308TGG[1]
NM_000644.3:c.306_308TGG[1]
NM_000646.3:c.258_260TGG[1]
NM_001425325.1:c.306_308TGG[1]
NM_001425326.1:c.306_308TGG[1]
NM_001425327.1:c.306_308TGG[1]
NM_001425328.1:c.306_308TGG[1]
NM_001425329.1:c.306_308TGG[1]
NP_000019.2:p.Gly105del
NP_000019.2:p.Gly105del
NP_000633.2:p.Gly105del
NP_000634.2:p.Gly105del
NP_000634.2:p.Gly105del
NP_000635.2:p.Gly105del
NP_000635.2:p.Gly105del
NP_000637.2:p.Gly89del
NP_000637.2:p.Gly89del
NP_001412254.1:p.Gly105del
NP_001412255.1:p.Gly105del
NP_001412256.1:p.Gly105del
NP_001412257.1:p.Gly105del
NP_001412258.1:p.Gly105del
NC_000001.10:g.100327824_100327826del
NC_000001.10:g.100327825TGG[1]
NM_000028.2:c.306TGG[1]
NM_000642.2:c.309_311del
NM_000642.3:c.309_311delMANE SELECT
NM_000643.2:c.306TGG[1]
NM_000644.2:c.306TGG[1]
NM_000646.2:c.258TGG[1]

Protein change:

G105del

Links:

dbSNP: rs775865279

NCBI 1000 Genomes Browser:

rs775865279

Molecular consequence:

NM_000642.3:c.306TGG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_000028.3:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_000643.3:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_000644.3:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_000646.3:c.258_260TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001425325.1:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001425326.1:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001425327.1:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001425328.1:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001425329.1:c.306_308TGG[1] - inframe_indel - [Sequence Ontology: SO:0001820]

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
SCV001420752	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Aug 30, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002091436	Natera, Inc.	no assertion criteria provided	Uncertain significance (Jun 9, 2020)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001420752

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Aug 30, 2021)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV002091436

Natera, Inc.

no assertion criteria provided

Uncertain significance
(Jun 9, 2020)

germline

clinical testing

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, SCV001420752.2

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

Description

This variant, c.309_311del, results in the deletion of 1 amino acid(s) of the AGL protein (p.Gly105del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775865279, ExAC 0.06%). This variant has not been reported in the literature in individuals affected with AGL-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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

From Natera, Inc., SCV002091436.1

#	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	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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