NM_000642.3(AGL):c.3733del (p.Thr1245fs) AND Glycogen storage disease type III

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 5, 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:: RCV003466121.1

Allele description [Variation Report for NM_000642.3(AGL):c.3733del (p.Thr1245fs)]

NM_000642.3(AGL):c.3733del (p.Thr1245fs)

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.3733del (p.Thr1245fs)

HGVS:

NC_000001.11:g.99910744del
NG_012865.1:g.65661del
NM_000028.3:c.3733delA
NM_000642.2:c.3733del
NM_000642.3:c.3733delMANE SELECT
NM_000643.3:c.3733delA
NM_000644.3:c.3733delA
NM_000646.3:c.3685delA
NM_001425325.1:c.3733delA
NM_001425326.1:c.3712delA
NM_001425327.1:c.3532delA
NM_001425328.1:c.3529delA
NM_001425329.1:c.3394delA
NM_001425332.1:c.3355delA
NP_000019.2:p.Thr1245Glnfs
NP_000019.2:p.Thr1245fs
NP_000633.2:p.Thr1245fs
NP_000634.2:p.Thr1245Glnfs
NP_000634.2:p.Thr1245fs
NP_000635.2:p.Thr1245Glnfs
NP_000635.2:p.Thr1245fs
NP_000637.2:p.Thr1229Glnfs
NP_000637.2:p.Thr1229fs
NP_001412254.1:p.Thr1245Glnfs
NP_001412255.1:p.Thr1238Glnfs
NP_001412256.1:p.Thr1178Glnfs
NP_001412257.1:p.Thr1177Glnfs
NP_001412258.1:p.Thr1132Glnfs
NP_001412261.1:p.Thr1119Glnfs
NC_000001.10:g.100376300del
NM_000028.2:c.3733del
NM_000643.2:c.3733del
NM_000644.2:c.3733del
NM_000646.2:c.3685del

Protein change:

T1229fs

Molecular consequence:

NM_000028.3:c.3733delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000642.3:c.3733del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000643.3:c.3733delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000644.3:c.3733delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_000646.3:c.3685delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425325.1:c.3733delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425326.1:c.3712delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425327.1:c.3532delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425328.1:c.3529delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425329.1:c.3394delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001425332.1:c.3355delA - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV004190906	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 5, 2023)	unknown	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

SCV004190906

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 5, 2023)

unknown

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	unknown	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 Baylor Genetics, SCV004190906.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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