NM_000642.3(AGL):c.1185+7C>T AND Glycogen storage disease type III

Germline classification:: Likely benign (1 submission)
Last evaluated:: Jun 14, 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:: RCV003634131.2

Allele description [Variation Report for NM_000642.3(AGL):c.1185+7C>T]

NM_000642.3(AGL):c.1185+7C>T

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.1185+7C>T

HGVS:

NC_000001.11:g.99875263C>T
NG_012865.1:g.30180C>T
NM_000028.3:c.1185+7C>T
NM_000642.3:c.1185+7C>TMANE SELECT
NM_000643.3:c.1185+7C>T
NM_000644.3:c.1185+7C>T
NM_000646.3:c.1137+7C>T
NM_001425325.1:c.1185+7C>T
NM_001425326.1:c.1185+7C>T
NM_001425327.1:c.1082+453C>T
NM_001425328.1:c.981+7C>T
NM_001425329.1:c.981+7C>T
NM_001425332.1:c.807+7C>T
NC_000001.10:g.100340819C>T

Molecular consequence:

NM_000028.3:c.1185+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000642.3:c.1185+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000643.3:c.1185+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000644.3:c.1185+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000646.3:c.1137+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001425325.1:c.1185+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001425326.1:c.1185+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001425327.1:c.1082+453C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001425328.1:c.981+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001425329.1:c.981+7C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001425332.1:c.807+7C>T - 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

Recent activity

Clear Turn Off Turn On

RecName: Full=Hyaluronan synthase 1; AltName: Full=Hyaluronate synthase 1; AltNa...
RecName: Full=Hyaluronan synthase 1; AltName: Full=Hyaluronate synthase 1; AltName: Full=Hyaluronic acid synthase 1; Short=HA synthase 1; Short=HuHAS1
gi|209572627|sp|Q92839.2|HYAS1_HUMA

Protein
RecName: Full=Lysosomal protective protein; AltName: Full=Carboxypeptidase C; Al...
RecName: Full=Lysosomal protective protein; AltName: Full=Carboxypeptidase C; AltName: Full=Carboxypeptidase L; AltName: Full=Cathepsin A; AltName: Full=Protective protein cathepsin A; Short=PPCA; AltName: Full=Protective protein for beta-galactosidase; Contains: RecName: Full=Lysosomal protective protein 32 kDa chain; Contains: RecName: Full=Lysosomal protective protein 20 kDa chain; Flags: Precursor
gi|20178316|sp|P10619.2|PPGB_HUMAN

Protein
Vitreous syneresis
Vitreous syneresis

MedGen
C0155366[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004534439	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Likely benign (Jun 14, 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

SCV004534439

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Likely benign
(Jun 14, 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, SCV004534439.1

#	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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