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NM_000151.4(G6PC1):c.499dup (p.Cys167fs)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 23, 2016)
Last evaluated:
Mar 9, 2016
Accession:
VCV000370616.1
Variation ID:
370616
Description:
1bp duplication
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NM_000151.4(G6PC1):c.499dup (p.Cys167fs)

Allele ID
358442
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42909354-42909355 (GRCh38) GRCh38 UCSC
17: 41061371-41061372 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_147:g.13558dup
NC_000017.10:g.41061372dup
NC_000017.11:g.42909355dup
... more HGVS
Protein change
S142fs, C167fs
Other names
-
Canonical SPDI
NC_000017.11:42909354:T:TT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16041844
dbSNP: rs1057516630
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 Mar 9, 2016 RCV000412063.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PC1 - - GRCh38
GRCh37
294 302

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 09, 2016)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
Allele origin: unknown
Counsyl
Accession: SCV000485977.1
Submitted: (Nov 23, 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 rs1057516630...

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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 08, 2021