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NM_021957.4(GYS2):c.1872A>G (p.Glu624=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 23, 2020
Accession:
VCV000137527.5
Variation ID:
137527
Description:
single nucleotide variant
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NM_021957.4(GYS2):c.1872A>G (p.Glu624=)

Allele ID
141230
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 21539276 (GRCh38) GRCh38 UCSC
12: 21692210 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1293:g.70572A>G
LRG_1293t1:c.1872A>G LRG_1293p1:p.Glu624=
NC_000012.11:g.21692210T>C
... more HGVS
Protein change
-
Other names
p.E624E:GAA>GAG
Canonical SPDI
NC_000012.12:21539275:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00339 (C)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00122
1000 Genomes Project 0.00339
Trans-Omics for Precision Medicine (TOPMed) 0.00518
Exome Aggregation Consortium (ExAC) 0.00138
Trans-Omics for Precision Medicine (TOPMed) 0.00554
The Genome Aggregation Database (gnomAD) 0.00497
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00554
The Genome Aggregation Database (gnomAD) 0.00562
Links
ClinGen: CA291149
dbSNP: rs142883971
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Nov 28, 2012 RCV000125335.2
Benign 2 criteria provided, multiple submitters, no conflicts Nov 23, 2020 RCV000274758.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GYS2 - - GRCh38
GRCh37
203 241

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 28, 2012)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168786.10
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000313848.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to hepatic glycogen synthase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000377420.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 23, 2020)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to hepatic glycogen synthase deficiency
Allele origin: germline
Invitae
Accession: SCV001109322.3
Submitted: (Jan 07, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs142883971...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021