rs80359507
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 1332,339,705 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;AMost notableBadBRCA2 variant considered pathogenic for breast cancer
- -;AABadBRCA2 variant considered pathogenic for breast cancer
- AA;AAGoodcommon in clinvar
On SNPedia: (-;A), (-;AA), (AA;AA). 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
rs80359507, also known as 5578delAA, c.5350_5351delAA and p.Asn1784Hisfs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar. Note the many different mutations all now lumped by dbSNP under a single rsID; at a minimum, these include delAAA, delAA, delA, dupA and dupAA. Of these 5, all are considered pathogenic except for the first, delAAA, which is of uncertain significance. 23andMe name for c.5351delA: i5009103
-;AA
See details at rs80359507. Note: if raw data is "DI", exact mutation may be ambiguous.
Source and license
Adapted from rs80359507 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.