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NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 3, 2020
Accession:
VCV001045088.1
Variation ID:
1045088
Description:
single nucleotide variant
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NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)

Allele ID
1025054
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
3q24
Genomic location
3: 148996364 (GRCh38) GRCh38 UCSC
3: 148714151 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000003.11:g.148714151C>G
NC_000003.12:g.148996364C>G
NG_027677.1:g.9957C>G
... more HGVS
Protein change
S69C
Other names
-
Canonical SPDI
NC_000003.12:148996363:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00001
Links
dbSNP: rs1483682431
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 3, 2020 RCV001349437.1
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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
98 114

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter More information
Uncertain significance
(Aug 03, 2020)
criteria provided, single submitter
Method: clinical testing
Polyglucosan body myopathy 2
Glycogen storage disease XV
Affected status: unknown
Allele origin: germline
Invitae
Accession: SCV001543782.1
Submitted: (Jan 07, 2021)
Comment:
This sequence change replaces serine with cysteine at codon 69 of the GYG1 protein (p.Ser69Cys). The serine residue is highly conserved and there is a … (more)

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 rs1483682431...

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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