---
title: "BRCA2 Q2829R (c.8486A>G, rs80359100) | Dante Labs"
description: "ClinVar classifies BRCA2 Q2829R 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/brca2/variants/q2829r"
---

1. [Genes](https://dantelabs.com/genes)
2. [BRCA2](https://dantelabs.com/genes/brca2)
3. BRCA2 Q2829R

Variant

# BRCA2 Q2829R

NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)

Also known as

- 8714A>G
- p.Gln2829Arg
- p.Q2829R
- rs80359100

* ClinVar classification

  Pathogenic

* Review status

  3 stars out of 4 reviewed by expert panel

* Last evaluated

  21 September 2026

* Expert panel

  ClinGen ENIGMA BRCA1 and BRCA2 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

Q2829R is a missense variant in BRCA2: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for BRCA2-related cancer predisposition (reviewed by expert panel).

## ClinVar classifications

| Condition                                                                                                                                                                                                   | Classification | Review status                             | Submissions  | Last evaluated    |
| ----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | ----------------- |
| [BRCA2-related cancer predisposition](https://dantelabs.com/conditions/hereditary-breast-ovarian-cancer) [ClinVar VCV000038161 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/38161/) | Pathogenic     | 3 stars out of 4 reviewed by expert panel | 1 submission | 21 September 2026 |

Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.

## Where it lies in BRCA2

Q2829R lies in exon 19 of the 27 in BRCA2's MANE Select transcript, NM_000059.4.

[BRCA2 variants in exon 19 →](https://dantelabs.com/genes/brca2/variants?exon=19) [BRCA2's gene diagram →](https://dantelabs.com/genes/brca2#gene-structure)

## Molecular details

| Gene                        | [BRCA2](https://dantelabs.com/genes/brca2)                                                                                                                                                   |
| --------------------------- | -------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- |
| Transcript                  | NM_000059.4 MANE Select                                                                                                                                                                      |
| Coding DNA change (HGVS c.) | c.8486A>G                                                                                                                                                                                    |
| Protein change (HGVS p.)    | p.Gln2829Arg p.Q2829R                                                                                                                                                                        |
| Predicted consequence       | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) [exonic_splice_region_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0002084) |
| Predicted impact            | Moderate                                                                                                                                                                                     |
| Position (GRCh38)           | chr13:32370556 A>G                                                                                                                                                                           |
| Position (GRCh37)           | chr13:32944693 A>G                                                                                                                                                                           |
| dbSNP ID                    | [rs80359100 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs80359100)                                                                                                               |
| ClinVar Variation ID        | [VCV000038161 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/38161/)                                                                                                   |
| ClinVar Allele ID           | 46717                                                                                                                                                                                        |
| ClinGen Allele Registry ID  | [CA025666 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA025666)                                              |
| ClinVar name                | NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)                                                                                                                                                  |
| Other names                 | 8714A>G                                                                                                                                                                                      |

## BRCA2 Q2829R in other databases

- [ClinVar VCV000038161 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/38161/)
- [dbSNP rs80359100 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs80359100)
- [ClinGen Allele Registry CA025666 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA025666)
- [gnomAD 13-32370556-A-G (opens in a new tab)](https://gnomad.broadinstitute.org/variant/13-32370556-A-G?dataset=gnomad_r4)
- [Ensembl rs80359100 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs80359100)

## Reports that look at this variant (1)

These Genome Test condition reports include Q2829R among the variants they look at.

| Report                                                                                                              | Conditions                          | Inheritance        |
| ------------------------------------------------------------------------------------------------------------------- | ----------------------------------- | ------------------ |
| [Hereditary Breast and Ovarian Cancer (BRCA1/2)](https://dantelabs.com/conditions/hereditary-breast-ovarian-cancer) | BRCA2-related cancer predisposition | Autosomal dominant |

## Other variants in BRCA2

- [A22Qfs\*3 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a22qfs3)
- [A39Lfs\*41 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a39lfs41)
- [A75Dfs\*26 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a75dfs26)
- [A127Sfs\*3 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a127sfs3)
- [A199Hfs\*11 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a199hfs11)
- [A248Vfs\*3 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a248vfs3)
- [A483Gfs\*31 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a483gfs31)
- [A483Qfs\*2 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a483qfs2)
- [A495Ffs\*17 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a495ffs17)
- [A518Qfs\*7 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/brca2/variants/a518qfs7)

[All BRCA2 variants](https://dantelabs.com/genes/brca2/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). BRCA2 Q2829R (c.8486A>G, rs80359100) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/brca2/variants/q2829r

Vancouver

> Dante Labs. BRCA2 Q2829R (c.8486A>G, rs80359100) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/brca2/variants/q2829r

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