NM_000642.3(AGL):c.442del (p.Arg148fs) AND Glycogen storage disease type III

Clinical significance:Likely pathogenic (Last evaluated: Jan 11, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000412473.1

Allele description [Variation Report for NM_000642.3(AGL):c.442del (p.Arg148fs)]

NM_000642.3(AGL):c.442del (p.Arg148fs)

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.442del (p.Arg148fs)
HGVS:
  • NC_000001.11:g.99862405del
  • NG_012865.1:g.17322del
  • NM_000028.2:c.442del
  • NM_000642.3:c.442delMANE SELECT
  • NM_000643.2:c.442del
  • NM_000644.2:c.442del
  • NM_000646.2:c.394del
  • NP_000019.2:p.Arg148fs
  • NP_000633.2:p.Arg148fs
  • NP_000634.2:p.Arg148fs
  • NP_000635.2:p.Arg148fs
  • NP_000637.2:p.Arg132fs
  • NC_000001.10:g.100327961del
  • NM_000642.2:c.442delA
Protein change:
R132fs
Links:
dbSNP: rs1057516397
NCBI 1000 Genomes Browser:
rs1057516397
Molecular consequence:
  • NM_000028.2:c.442del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000642.3:c.442del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000643.2:c.442del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000644.2:c.442del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_000646.2:c.394del - 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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000485588Counsylcriteria provided, single submitter
Likely pathogenic
(Jan 11, 2016)
unknownclinical testing

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

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.

Lucchiari S, Pagliarani S, Salani S, Filocamo M, Di Rocco M, Melis D, Rodolico C, Musumeci O, Toscano A, Bresolin N, Comi GP.

Hum Mutat. 2006 Jun;27(6):600-1.

PubMed [citation]
PMID:
16705713

Details of each submission

From Counsyl, SCV000485588.1

#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: Nov 27, 2021

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