rs80359406
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is -;A: BRCA2 variant considered pathogenic for breast cancer
- Gene
- BRCA2
- Location
- Chr 1332,338,209 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;AMost notableBadBRCA2 variant considered pathogenic for breast cancer
- -;AABadBRCA2 variant considered pathogenic for breast cancer
- -;AAAABadBRCA2 variant considered pathogenic for breast cancer
- A;AGoodcommon in clinvar
On SNPedia: (-;A), (-;AA), (-;AAAA), (A;A). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other BRCA2 SNPs
- i5009091D;Ilikely to be BRCA2 variant pathogenic for breast cancerVery important
- rs4987049A;CBRCA2 variant considered pathogenic for breast cancerVery important
- rs11571658-;TTBRCA2 variant considered pathogenic for breast cancerVery important
- rs28897743A;Gconsidered a causal BRCA2 breast cancer mutationVery important
- rs28897746C;TBRCA2 variant considered pathogenic for breast cancerVery important
- rs28897756A;ABRCA2, breast cancer mutationVery important
- rs41293477G;TBRCA2 variant considered pathogenic for breast cancerVery important
- rs41293489C;GBRCA2 variant considered pathogenic for breast cancerVery important
Notes
From SNPedia
Notes
rs80359406 is a SNP covering a run of seven A's in the BRCA2 gene, and variants of it can represent either a duplication (dupA) or any of several deletions (delA, delAA, delAAA, delAAAA, etc). With the exception of delAAA (c.3858_3860delAAA), which is likely to be benign, all the rest are considered pathogenic in ClinVar for breast cancer.
-;A
See details at rs80359406. Note: raw data indicating just "DI" could represent any of at least 5 different mutations, all but one of which are pathogenic. Make sure to find out which exact genotype "DI" represents for the company providing that raw data.
Source and license
Adapted from rs80359406 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.