--- title: "GCK D274A (c.821A>C) | Dante Labs" description: "ClinVar classifies GCK D274A as Pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/gck/variants/d274a" --- 1. [Genes](https://dantelabs.com/genes) 2. [GCK](https://dantelabs.com/genes/gck) 3. GCK D274A Variant # GCK D274A NM_000162.5(GCK):c.821A>C (p.Asp274Ala) Also known as - p.Asp274Ala - p.D274A * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 4 November 2024 * Expert panel ClinGen Monogenic Diabetes Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary D274A is a missense variant in GCK: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for monogenic diabetes (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ---------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | --------------- | | monogenic diabetes[ClinVar VCV003383925 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/3383925/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 4 November 2024 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in GCK D274A lies in exon 7 of the 10 in GCK's MANE Select transcript, NM_000162.5. [GCK variants in exon 7 →](https://dantelabs.com/genes/gck/variants?exon=7) [GCK's gene diagram →](https://dantelabs.com/genes/gck#gene-structure) ## Molecular details | Gene | [GCK](https://dantelabs.com/genes/gck) | | --------------------------- | -------------------------------------------------------------------------------------------- | | Transcript | NM_000162.5 MANE Select | | Coding DNA change (HGVS c.) | c.821A>C | | Protein change (HGVS p.) | p.Asp274Ala p.D274A | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr7:44147692 T>G | | Position (GRCh37) | chr7:44187291 T>G | | ClinVar Variation ID | [VCV003383925 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/3383925/) | | ClinVar Allele ID | 3543090 | | ClinVar name | NM_000162.5(GCK):c.821A>C (p.Asp274Ala) | ## GCK D274A in other databases - [ClinVar VCV003383925 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/3383925/) - [gnomAD 7-44147692-T-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/7-44147692-T-G?dataset=gnomad_r4) - [Ensembl 7-44147692-T-G (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Location/View?r=7:44147692-44147692) ## Reports that look at this variant (1) These Genome Test condition reports include D274A among the variants they look at. | Report | Conditions | Inheritance | | ----------------------------------------------------------------------- | ----------------- | ----------- | | [Diabetes Mellitus](https://dantelabs.com/conditions/diabetes-mellitus) | Diabetes Mellitus | | ## Other variants in GCK - [A53V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a53v) - [A188T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a188t) - [A201S Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a201s) - [A208P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a208p) - [A208T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a208t) - [A208V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a208v) - [A259S Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a259s) - [A259T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a259t) - [A259V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a259v) - [A378Cfs\*80 Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/gck/variants/a378cfs80) [All GCK variants](https://dantelabs.com/genes/gck/variants) ## Limitations This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant. Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports. Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements. If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor. ## Sources & credits - Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information. - Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0. - Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16). - Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16). - Difficult regions from the Genome in a Bottle Consortium (release v3.6). - Transcripts from MANE (release v1.5), NCBI and EMBL-EBI. - Predicted consequences from mehari (release 0.11.0), with transcript models from cdot. - Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026. ## Cite this page APA > Dante Labs. (16 October 2026). GCK D274A (c.821A>C) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/gck/variants/d274a Vancouver > Dante Labs. GCK D274A (c.821A>C) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/gck/variants/d274a Download citation [RIS](https://dantelabs.com/genes/gck/variants/d274a/cite.ris) [BibTeX](https://dantelabs.com/genes/gck/variants/d274a/cite.bib) [CSL-JSON](https://dantelabs.com/genes/gck/variants/d274a/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)