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NM_000642.3(AGL):c.1185+1G>A AND Glycogen storage disease type III

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 8, 2016
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:
RCV000412479.2

Allele description [Variation Report for NM_000642.3(AGL):c.1185+1G>A]

NM_000642.3(AGL):c.1185+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.1185+1G>A
HGVS:
  • NC_000001.11:g.99875257G>A
  • NG_012865.1:g.30174G>A
  • NM_000028.3:c.1185+1G>A
  • NM_000642.3:c.1185+1G>AMANE SELECT
  • NM_000643.3:c.1185+1G>A
  • NM_000644.3:c.1185+1G>A
  • NM_000646.3:c.1137+1G>A
  • NM_001425325.1:c.1185+1G>A
  • NM_001425326.1:c.1185+1G>A
  • NM_001425327.1:c.1082+447G>A
  • NM_001425328.1:c.981+1G>A
  • NM_001425329.1:c.981+1G>A
  • NM_001425332.1:c.807+1G>A
  • NC_000001.10:g.100340813G>A
  • NM_000642.2:c.1185+1G>A
Links:
dbSNP: rs1057516948
NCBI 1000 Genomes Browser:
rs1057516948
Molecular consequence:
  • NM_001425327.1:c.1082+447G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000028.3:c.1185+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000642.3:c.1185+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000643.3:c.1185+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000644.3:c.1185+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_000646.3:c.1137+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425325.1:c.1185+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425326.1:c.1185+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425328.1:c.981+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425329.1:c.981+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001425332.1:c.807+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

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000486481Counsyl
criteria provided, single submitter

(Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015))		Likely pathogenic
(Jun 8, 2016) 		unknownclinical testing

mdi-5618_320494_Counsyl Autosomal and X-linked Recessive Disease Classification criteria (2015).pdf

Citation Link

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Summary from all submissions

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

Details of each submission

From Counsyl, SCV000486481.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024