rs397507419
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 1332,379,893 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;AMost notableBadBRCA2 variant considered pathogenic for breast cancer
- -;AAAABadBRCA2 variant considered pathogenic for breast cancer
On SNPedia: (-;-), (-;A), (-;AAAA). 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
rs397507419 represents three mutations in the BRCA2 gene, all of which are considered pathogenic for breast cancer in ClinVar. rs397507419 is also known as c.9097delA, c.9094_9097delAAAA and c.9097dupA. One of these mutations is also considered a founder mutation in some populations (for example, Hungary). 23andMe name: i5010569
-;A
see discussion at rs397507419. Note: if the raw data is "DI", the exact mutation may be ambiguous.
Source and license
Adapted from rs397507419 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.