NM_021957.4(GYS2):c.1644C>T (p.Tyr548=) AND Glycogen storage disorder due to hepatic glycogen synthase deficiency

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 30, 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:: RCV002532781.1

Allele description [Variation Report for NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)]

NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)

Gene:

GYS2:glycogen synthase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

Preferred name:

NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)

HGVS:

NC_000012.12:g.21542497G>A
NG_016167.1:g.67351C>T
NM_021957.4:c.1644C>TMANE SELECT
NP_068776.2:p.Tyr548=
LRG_1293t1:c.1644C>T
LRG_1293:g.67351C>T
LRG_1293p1:p.Tyr548=
NC_000012.11:g.21695431G>A
NM_021957.3:c.1644C>T

Links:

dbSNP: rs146660038

NCBI 1000 Genomes Browser:

rs146660038

Molecular consequence:

NM_021957.4:c.1644C>T - synonymous variant - [Sequence Ontology: SO:0001819]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003256173	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Sep 30, 2021)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003256173

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Sep 30, 2021)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

Details of each submission

From Invitae, SCV003256173.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This sequence change affects codon 548 of the GYS2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the GYS2 protein. This variant is present in population databases (rs146660038, ExAC 0.05%). This variant has not been reported in the literature in individuals with GYS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 513242). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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