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NM_021957.4(GYS2):c.1230-14dup AND Glycogen storage disorder due to hepatic glycogen synthase deficiency

Clinical significance:Benign (Last evaluated: Feb 19, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001062226.5

Allele description [Variation Report for NM_021957.4(GYS2):c.1230-14dup]

NM_021957.4(GYS2):c.1230-14dup

Gene:
GYS2:glycogen synthase 2 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
12p12.1
Genomic location:
Preferred name:
NM_021957.4(GYS2):c.1230-14dup
HGVS:
  • NC_000012.12:g.21559178dup
  • NC_000012.12:g.21559183dup
  • NG_016167.1:g.50670dup
  • NM_021957.4:c.1230-14dupMANE SELECT
  • LRG_1293t1:c.1230-14dup
  • LRG_1293:g.50670dup
  • NC_000012.11:g.21712111_21712112insA
  • NC_000012.11:g.21712117dup
  • NM_021957.3:c.1230-9dup
Links:
dbSNP: rs752714629
NCBI 1000 Genomes Browser:
rs752714629
Molecular consequence:
  • NM_021957.4:c.1230-14dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Synonyms:
GSD 0a; LIVER GLYCOGEN SYNTHASE DEFICIENCY; Hypoglycemia with deficiency of glycogen synthetase in the liver; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009414; MedGen: C1855861; Orphanet: 2089; OMIM: 240600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001227008Invitaecriteria provided, single submitter
Benign
(Feb 19, 2021)
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, SCV001227008.3

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

Last Updated: Aug 23, 2022

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