Converted during submission to Likely benign.
ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Conflicting interpretations of pathogenicity
Likely benign(2);Uncertain significance(1)
- Review status:
- criteria provided, conflicting interpretations
- Submissions:
- 3 (Most recent: Aug 31, 2018)
- Last evaluated:
- May 4, 2018
- Accession:
- VCV000036193.1
- Variation ID:
- 36193
- Description:
- single nucleotide variant
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NM_000162.5(GCK):c.1288C>T (p.Leu430=)
- Allele ID
- 44857
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 7p13
- Genomic location
- 7: 44145246 (GRCh38) GRCh38 UCSC
- 7: 44184845 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNC_000007.14:g.44145246G>A NC_000007.13:g.44184845G>A NM_000162.5:c.1288C>T MANE Select NP_000153.1:p.Leu430= synonymous NM_001354800.1:c.1288C>T NP_001341729.1:p.Leu430= synonymous NM_001354801.1:c.277C>T NP_001341730.1:p.Leu93= synonymous NM_001354802.1:c.148C>T NP_001341731.1:p.Leu50= synonymous NM_001354803.1:c.322C>T NP_001341732.1:p.Leu108= synonymous NM_033507.3:c.1291C>T NP_277042.1:p.Leu431= synonymous NM_033508.3:c.1285C>T NP_277043.1:p.Leu429= synonymous LRG_1074t1:c.1288C>T LRG_1074p1:p.Leu430= LRG_1074t2:c.1291C>T LRG_1074p2:p.Leu431= LRG_1074:g.57925C>T NG_008847.2:g.57925C>T - Protein change
- -
- Other names
- -
- Canonical SPDI
- NC_000007.14:44145245:G:A
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- The Genome Aggregation Database (gnomAD), exomes 0.00013
- The Genome Aggregation Database (gnomAD) 0.00025
- Exome Aggregation Consortium (ExAC) 0.00010
- Trans-Omics for Precision Medicine (TOPMed) 0.00011
- Links
- dbSNP: rs193922276
- ClinGen: CA213747
- Varsome
Help
Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Likely benign | 1 | criteria provided, single submitter | Aug 18, 2011 | RCV000029856.1 | |
| Uncertain significance | 1 | criteria provided, single submitter | Mar 28, 2016 | RCV000501325.2 | |
| Likely benign | 1 | criteria provided, single submitter | May 4, 2018 | RCV000710138.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | Supporting information
(See all) |
|---|---|---|---|---|
|
Uncertain significance
(Mar 28, 2016)
|
criteria provided, single submitter
Method: clinical testing
|
not specified
Allele origin:
germline
|
Genetic Services Laboratory, University of Chicago
Accession: SCV000594947.1
Submitted: (Jul 05, 2017) |
|
|
likely benign
(Aug 18, 2011)
|
criteria provided, single submitter
Method: curation, clinical testing
|
MODY2
(autosomal unknown)
Allele origin:
germline
|
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052511.1
Submitted: (Aug 18, 2011) |
Comment:
Converted during submission to Likely benign.
|
|
Likely benign
(May 04, 2018)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Allele origin:
germline
|
Athena Diagnostics Inc
Accession: SCV000613411.2
Submitted: (Aug 31, 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| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Characteristics of maturity onset diabetes of the young in a large diabetes center. | Chambers C | Pediatric diabetes | 2016 | PMID: 26059258 |
| Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. | Osbak KK | Human mutation | 2009 | PMID: 19790256 |
Text-mined citations for rs193922276...
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 Jun 14, 2021