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NM_000642.3(AGL):c.82+1G>A AND Glycogen storage disease type III

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 27, 2017
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:
RCV000671602.1

Allele description [Variation Report for NM_000642.3(AGL):c.82+1G>A]

NM_000642.3(AGL):c.82+1G>A

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.82+1G>A
HGVS:
  • NC_000001.11:g.99851125G>A
  • NG_012865.1:g.6042G>A
  • NG_091707.1:g.744G>A
  • NM_000028.2:c.82+1G>A
  • NM_000642.3:c.82+1G>AMANE SELECT
  • NM_000643.2:c.82+1G>A
  • NM_000644.2:c.82+1G>A
  • NM_000646.2:c.-110+1G>A
  • NC_000001.10:g.100316681G>A
  • NM_000642.2:c.82+1G>A
Links:
dbSNP: rs1354714214
NCBI 1000 Genomes Browser:
rs1354714214
Molecular consequence:
  • NM_000028.2:c.82+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000642.3:c.82+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000643.2:c.82+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000644.2:c.82+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000646.2:c.-110+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000796590Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Likely pathogenic
(Dec 27, 2017) 		unknownclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.

Michon CC, Gargiulo M, Hahn-Barma V, Petit F, Nadaj-Pakleza A, Herson A, Eymard B, Labrune P, Laforet P.

J Inherit Metab Dis. 2015 May;38(3):573-80. doi: 10.1007/s10545-014-9789-1. Epub 2014 Nov 12.

PubMed [citation]
PMID:
25388549

Details of each submission

From Counsyl, SCV000796590.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 2, 2024