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NM_002103.5(GYS1):c.*908G>A

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
3 (Most recent: Oct 18, 2016)
Last evaluated:
Jun 14, 2016
Accession:
VCV000329792.2
Variation ID:
329792
Description:
single nucleotide variant
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NM_002103.5(GYS1):c.*908G>A

Allele ID
350175
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19q13.33
Genomic location
19: 48968380 (GRCh38) GRCh38 UCSC
19: 49471637 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.48968380C>T
NC_000019.9:g.49471637C>T
NG_008152.1:g.8072C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000019.10:48968379:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.01198 (T)

Allele frequency
1000 Genomes Project 0.01198
The Genome Aggregation Database (gnomAD) 0.00778
Exome Aggregation Consortium (ExAC) 0.02782
Trans-Omics for Precision Medicine (TOPMed) 0.00592
The Genome Aggregation Database (gnomAD), exomes 0.01294
Links
ClinGen: CA9562630
dbSNP: rs117997270
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000263403.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000278073.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000355645.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FTL No evidence available No evidence available GRCh38
GRCh37
70 103
GYS1 - - GRCh38
GRCh37
309 345

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen Storage Disease Type 0, Muscle
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000414224.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Neuroferritinopathy
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483743.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Hyperferritinemia Cataract Syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000483744.2
Submitted: (Oct 18, 2016)
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 rs117997270...

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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 Sep 29, 2021