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NM_004130.4(GYG1):c.552G>A (p.Pro184=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 4, 2020
Accession:
VCV000379980.3
Variation ID:
379980
Description:
single nucleotide variant
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NM_004130.4(GYG1):c.552G>A (p.Pro184=)

Allele ID
368262
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q24
Genomic location
3: 149009346 (GRCh38) GRCh38 UCSC
3: 148727133 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.148727133G>A
NC_000003.12:g.149009346G>A
NG_027677.1:g.22939G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000003.12:149009345:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.30132 (A)

Allele frequency
1000 Genomes Project 0.30132
Trans-Omics for Precision Medicine (TOPMed) 0.29403
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.29433
Exome Aggregation Consortium (ExAC) 0.31249
The Genome Aggregation Database (gnomAD), exomes 0.31408
Trans-Omics for Precision Medicine (TOPMed) 0.29324
The Genome Aggregation Database (gnomAD) 0.29862
The Genome Aggregation Database (gnomAD) 0.30557
Links
ClinGen: CA2658589
dbSNP: rs4938
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 2, 2015 RCV000435478.1
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001520209.1
Benign 1 no assertion criteria provided Oct 20, 2015 RCV000675650.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GYG1 - - GRCh38
GRCh37
98 112

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Dec 02, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000517587.4
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 04, 2020)
criteria provided, single submitter
Method: clinical testing
Polyglucosan body myopathy 2
Glycogen storage disease XV
Allele origin: germline
Invitae
Accession: SCV001729269.1
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Oct 20, 2015)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: unknown
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV000801351.1
Submitted: (May 23, 2018)
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 rs4938...

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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 Dec 04, 2021