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

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1
First in ClinVar:
Apr 15, 2020
Most recent Submission:
May 16, 2022
Last evaluated:
Feb 19, 2021
Accession:
VCV000856711.5
Variation ID:
856711
Description:
1bp duplication
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NM_021957.4(GYS2):c.1230-14dup

Allele ID
852478
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
12p12.1
Genomic location
12: 21559177-21559178 (GRCh38) GRCh38 UCSC
12: 21712111-21712112 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_021957.4:c.1230-14dup MANE Select
NC_000012.12:g.21559183dup
NC_000012.11:g.21712117dup
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:21559177:AAAAAA:AAAAAAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs752714629
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Feb 19, 2021 RCV001062226.5
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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
223 262

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Benign
(Feb 19, 2021)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disorder due to hepatic glycogen synthase deficiency
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001227008.3
First in ClinVar: Apr 15, 2020
Last updated: May 16, 2022

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 rs752714629...

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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 Aug 24, 2022