ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Likely pathogenic
- Review status:
- criteria provided, single submitter
- Submissions:
- 1
- First in ClinVar:
- Aug 5, 2018
- Most recent Submission:
- Aug 5, 2018
- Last evaluated:
- Aug 10, 2017
- Accession:
- VCV000553272.1
- Variation ID:
- 553272
- Description:
- single nucleotide variant
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NM_000151.4(G6PC1):c.381C>A (p.Tyr127Ter)
- Allele ID
- 548189
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 17q21.31
- Genomic location
- 17: 42907563 (GRCh38) GRCh38 UCSC
- 17: 41059580 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000151.4:c.381C>A MANE Select NP_000142.2:p.Tyr127Ter nonsense NM_001270397.2:c.341-37C>A NC_000017.11:g.42907563C>A NC_000017.10:g.41059580C>A NG_011808.1:g.11766C>A LRG_147:g.11766C>A - Protein change
- Y127*
- Other names
- -
- Canonical SPDI
- NC_000017.11:42907562:C:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- dbSNP: rs1555559741
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Likely pathogenic | 1 | criteria provided, single submitter | Aug 10, 2017 | RCV000668679.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Likely pathogenic
(Aug 10, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000793319.1
First in ClinVar: Aug 05, 2018 Last updated: Aug 05, 2018 |
|
Functional evidence
Help| 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
Help| 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 rs1555559741...
HelpThese 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 Apr 25, 2022