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NM_000642.3(AGL):c.3836+45G>A AND Glycogen storage disease type III

Germline classification:
Benign (1 submission)
Last evaluated:
Jul 14, 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:
RCV001549090.2

Allele description [Variation Report for NM_000642.3(AGL):c.3836+45G>A]

NM_000642.3(AGL):c.3836+45G>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.3836+45G>A
HGVS:
  • NC_000001.11:g.99910892G>A
  • NG_012865.1:g.65809G>A
  • NM_000028.3:c.3836+45G>A
  • NM_000642.3:c.3836+45G>AMANE SELECT
  • NM_000643.3:c.3836+45G>A
  • NM_000644.3:c.3836+45G>A
  • NM_000646.3:c.3788+45G>A
  • NM_001425325.1:c.3836+45G>A
  • NM_001425326.1:c.3815+45G>A
  • NM_001425327.1:c.3635+45G>A
  • NM_001425328.1:c.3632+45G>A
  • NM_001425329.1:c.3497+45G>A
  • NM_001425332.1:c.3458+45G>A
  • NC_000001.10:g.100376448G>A
  • NM_000642.2:c.3836+45G>A
Links:
dbSNP: rs2274570
NCBI 1000 Genomes Browser:
rs2274570
Molecular consequence:
  • NM_000028.3:c.3836+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000642.3:c.3836+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000643.3:c.3836+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000644.3:c.3836+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000646.3:c.3788+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001425325.1:c.3836+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001425326.1:c.3815+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001425327.1:c.3635+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001425328.1:c.3632+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001425329.1:c.3497+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001425332.1:c.3458+45G>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001769174Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 14, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot providednot providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001769174.1

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

Last Updated: Sep 29, 2024