--- title: "ATM D2016G (c.6047A>G, rs587781302) | Dante Labs" description: "ClinVar classifies ATM D2016G as Likely 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/atm/variants/d2016g" --- 1. [Genes](https://dantelabs.com/genes) 2. [ATM](https://dantelabs.com/genes/atm) 3. ATM D2016G Variant # ATM D2016G NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) Also known as - p.Asp2016Gly - p.D2016G - rs587781302 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 11 November 2025 * Expert panel ClinGen Hereditary Breast, Ovarian and Pancreatic Cancer Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary D2016G is a missense variant in ATM: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for ATM-related cancer predisposition (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | ----------------- | ----------------------------------------- | ------------ | ---------------- | | [ATM-related cancer predisposition](https://dantelabs.com/conditions/moderate-penetrance-breast-ovarian-cancer-genes) [ClinVar VCV000140823 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/140823/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 11 November 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in ATM D2016G lies in exon 41 of the 63 in ATM's MANE Select transcript, NM_000051.4. [ATM variants in exon 41 →](https://dantelabs.com/genes/atm/variants?exon=41) [ATM's gene diagram →](https://dantelabs.com/genes/atm#gene-structure) ## Molecular details | Gene | [ATM](https://dantelabs.com/genes/atm) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000051.4 MANE Select | | Coding DNA change (HGVS c.) | c.6047A>G | | Protein change (HGVS p.) | p.Asp2016Gly p.D2016G | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr11:108315863 A>G | | Position (GRCh37) | chr11:108186590 A>G | | dbSNP ID | [rs587781302 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs587781302) | | ClinVar Variation ID | [VCV000140823 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/140823/) | | ClinVar Allele ID | 150537 | | ClinGen Allele Registry ID | [CA163663 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA163663) | | ClinVar name | NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) | ## ATM D2016G in other databases - [ClinVar VCV000140823 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/140823/) - [dbSNP rs587781302 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs587781302) - [ClinGen Allele Registry CA163663 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA163663) - [gnomAD 11-108315863-A-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/11-108315863-A-G?dataset=gnomad_r4) - [Ensembl rs587781302 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs587781302) ## Reports that look at this variant (1) These Genome Test condition reports include D2016G among the variants they look at. | Report | Conditions | Inheritance | | ---------------------------------------------------------------------------------------------------------------------------------- | --------------------------------- | ------------------ | | [Breast and Ovarian Cancer Genes Beyond BRCA1/2](https://dantelabs.com/conditions/moderate-penetrance-breast-ovarian-cancer-genes) | ATM-related cancer predisposition | Autosomal dominant | ## Other variants in ATM - [A911Rfs\*19 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/a911rfs19) - [c.2T>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-2t-c) - [c.332-1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-332-1g-a) - [c.496+5G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-496plus5g-a) - [c.1122_1123del Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-1122to1123del) - [c.1607+1G>T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-1607plus1g-t) - [c.2251-2A>T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-2251-2a-t) - [c.2251-4A>G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-2251-4a-g) - [c.2466+5G>C Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-2466plus5g-c) - [c.2639-23_2639-21del Pathogenic 3 stars out of 4](https://dantelabs.com/genes/atm/variants/c-2639-23to2639-21del) [All ATM variants](https://dantelabs.com/genes/atm/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). ATM D2016G (c.6047A>G, rs587781302) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/atm/variants/d2016g Vancouver > Dante Labs. ATM D2016G (c.6047A>G, rs587781302) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/atm/variants/d2016g Download citation [RIS](https://dantelabs.com/genes/atm/variants/d2016g/cite.ris) [BibTeX](https://dantelabs.com/genes/atm/variants/d2016g/cite.bib) [CSL-JSON](https://dantelabs.com/genes/atm/variants/d2016g/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)