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NM_004130.4(GYG1):c.159A>G (p.Thr53=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 29, 2020)
Last evaluated:
Dec 31, 2019
Accession:
VCV000380453.3
Variation ID:
380453
Description:
single nucleotide variant
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NM_004130.4(GYG1):c.159A>G (p.Thr53=)

Allele ID
366990
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q24
Genomic location
3: 148996317 (GRCh38) GRCh38 UCSC
3: 148714104 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_004130.3:c.159A>G NP_004121.2:p.Thr53= synonymous
NC_000003.11:g.148714104A>G
NC_000003.12:g.148996317A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:148996316:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00280 (G)

Allele frequency
1000 Genomes Project 0.00280
Exome Aggregation Consortium (ExAC) 0.00707
The Genome Aggregation Database (gnomAD), exomes 0.00723
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00938
The Genome Aggregation Database (gnomAD) 0.00672
Trans-Omics for Precision Medicine (TOPMed) 0.00811
Links
ClinGen: CA2658488
dbSNP: rs148619511
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 Dec 5, 2016 RCV000443797.1
Benign 1 criteria provided, single submitter Dec 31, 2019 RCV000536010.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GYG1 - - GRCh38
GRCh37
97 111

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 05, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000518535.4
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
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
Polyglucosan body myopathy 2
Glycogen storage disease XV
Allele origin: germline
Invitae
Accession: SCV000655549.3
Submitted: (Jan 29, 2020)
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 rs148619511...

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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 Oct 24, 2021