NM_000642.3(AGL):c.846+8T>A AND Glycogen storage disease type III

Clinical significance:Uncertain significance (Last evaluated: Nov 14, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000537803.2

Allele description [Variation Report for NM_000642.3(AGL):c.846+8T>A]

NM_000642.3(AGL):c.846+8T>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.846+8T>A
HGVS:
  • NC_000001.11:g.99870589T>A
  • NG_012865.1:g.25506T>A
  • NM_000028.2:c.846+8T>A
  • NM_000642.3:c.846+8T>AMANE SELECT
  • NM_000643.2:c.846+8T>A
  • NM_000644.2:c.846+8T>A
  • NM_000646.2:c.798+8T>A
  • NC_000001.10:g.100336145T>A
  • NM_000642.2:c.846+8T>A
Links:
dbSNP: rs372517543
NCBI 1000 Genomes Browser:
rs372517543
Molecular consequence:
  • NM_000028.2:c.846+8T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000642.3:c.846+8T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000643.2:c.846+8T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000644.2:c.846+8T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000646.2:c.798+8T>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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000626769Invitaecriteria provided, single submitter
Uncertain significance
(Nov 14, 2019)
germlineclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical 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):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV000626769.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This sequence change falls in intron 6 of the AGL gene. It does not directly change the encoded amino acid sequence of the AGL protein. This variant is present in population databases (rs372517543, ExAC 0.008%) but has not been reported in the literature in individuals with an AGL-related disease. Algorithms developed to predict the effect of nucleotide changes on RNA splicing suggest that this intronic variant may alter RNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare intronic change with uncertain impact on splicing. It has been classified as a Variant of Uncertain Significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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