rs80359473
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is -;GAAA: BRCA2 variant considered pathogenic for breast cancer
- Gene
- BRCA2
- Location
- Chr 1332,339,291 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;GAAAMost notableBadBRCA2 variant considered pathogenic for breast cancer
- AAAG;AAAGGoodcommon in clinvar
- GAAA;GAAAGoodcommon in clinvar
On SNPedia: (-;GAAA), (AAAG;AAAG), (GAAA;GAAA). 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
rs80359473, also known as 5164del4, c.4936_4939delGAAA and p.Glu1646_Thr1647?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.
-;GAAA
See details at rs80359473.
Source and license
Adapted from rs80359473 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.