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NM_000162.5(GCK):c.363+9C>T

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(5)

Review status:
criteria provided, conflicting interpretations
Submissions:
6 (Most recent: Dec 30, 2020)
Last evaluated:
Jan 7, 2020
Accession:
VCV000748518.3
Variation ID:
748518
Description:
single nucleotide variant
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NM_000162.5(GCK):c.363+9C>T

Allele ID
759683
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7p13
Genomic location
7: 44152262 (GRCh38) GRCh38 UCSC
7: 44191861 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.44191861G>A
NC_000007.14:g.44152262G>A
NM_000162.5:c.363+9C>T MANE Select
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000007.14:44152261:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00016
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00011
Exome Aggregation Consortium (ExAC) 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00007
Links
dbSNP: rs200985182
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 Jan 13, 2018 RCV001159381.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001164296.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001164297.1
Uncertain significance 1 criteria provided, single submitter Jan 13, 2018 RCV001164298.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jan 7, 2020 RCV000925313.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GCK - - GRCh38
GRCh37
520 543

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 25, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001070847.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hyperinsulinism due to glucokinase deficiency
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001321090.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Transient Neonatal Diabetes, Recessive
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001326411.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Permanent neonatal diabetes mellitus 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001326413.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Maturity-onset diabetes of the young, type 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001326412.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 07, 2020)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001477255.1
Submitted: (Dec 30, 2020)
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 rs200985182...

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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 Apr 08, 2021