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NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 1, 2004
Accession:
VCV000016144.1
Variation ID:
16144
Description:
single nucleotide variant
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NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)

Allele ID
31183
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p13
Genomic location
7: 44149798 (GRCh38) GRCh38 UCSC
7: 44189397 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_1074:g.53373A>G
LRG_1074t1:c.641A>G LRG_1074p1:p.Tyr214Cys
LRG_1074t2:c.644A>G LRG_1074p2:p.Tyr215Cys
... more HGVS
Protein change
Y214C, Y215C, Y213C
Other names
-
Canonical SPDI
NC_000007.14:44149797:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA257435
OMIM: 138079.0013
dbSNP: rs104894015
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 1, 2004 RCV000017526.27
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GCK - - GRCh38
GRCh37
524 547

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 01, 2004)
no assertion criteria provided
Method: literature only
HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 3
Allele origin: germline
OMIM
Accession: SCV000037798.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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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Title Author Journal Year Link
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation. Cuesta-Muñoz AL Diabetes 2004 PMID: 15277402

Text-mined citations for rs104894015...

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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