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NM_000642.3(AGL):c.3792A>T (p.Gly1264=) AND Glycogen storage disease type III

Germline classification:
Benign (2 submissions)
Last evaluated:
Jan 29, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000530507.13

Allele description [Variation Report for NM_000642.3(AGL):c.3792A>T (p.Gly1264=)]

NM_000642.3(AGL):c.3792A>T (p.Gly1264=)

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.3792A>T (p.Gly1264=)
HGVS:
  • NC_000001.11:g.99910803A>T
  • NG_012865.1:g.65720A>T
  • NM_000028.3:c.3792A>T
  • NM_000642.3:c.3792A>TMANE SELECT
  • NM_000643.3:c.3792A>T
  • NM_000644.3:c.3792A>T
  • NM_000646.3:c.3744A>T
  • NM_001425325.1:c.3792A>T
  • NM_001425326.1:c.3771A>T
  • NM_001425327.1:c.3591A>T
  • NM_001425328.1:c.3588A>T
  • NM_001425329.1:c.3453A>T
  • NM_001425332.1:c.3414A>T
  • NP_000019.2:p.Gly1264=
  • NP_000019.2:p.Gly1264=
  • NP_000633.2:p.Gly1264=
  • NP_000634.2:p.Gly1264=
  • NP_000634.2:p.Gly1264=
  • NP_000635.2:p.Gly1264=
  • NP_000635.2:p.Gly1264=
  • NP_000637.2:p.Gly1248=
  • NP_000637.2:p.Gly1248=
  • NP_001412254.1:p.Gly1264=
  • NP_001412255.1:p.Gly1257=
  • NP_001412256.1:p.Gly1197=
  • NP_001412257.1:p.Gly1196=
  • NP_001412258.1:p.Gly1151=
  • NP_001412261.1:p.Gly1138=
  • NC_000001.10:g.100376359A>T
  • NM_000028.2:c.3792A>T
  • NM_000642.2:c.3792A>T
  • NM_000643.2:c.3792A>T
  • NM_000644.2:c.3792A>T
  • NM_000646.2:c.3744A>T
Links:
dbSNP: rs148606237
NCBI 1000 Genomes Browser:
rs148606237
Molecular consequence:
  • NM_000028.3:c.3792A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000642.3:c.3792A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000643.3:c.3792A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000644.3:c.3792A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_000646.3:c.3744A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001425325.1:c.3792A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001425326.1:c.3771A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001425327.1:c.3591A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001425328.1:c.3588A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001425329.1:c.3453A>T - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001425332.1:c.3414A>T - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV000626740Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Benign
(Jan 29, 2024) 		germlineclinical testing

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

SCV002055074Genome-Nilou Lab
criteria provided, single submitter

(ACMG Guidelines, 2015)		Benign
(Jul 15, 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
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. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV000626740.8

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

From Genome-Nilou Lab, SCV002055074.1

#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