rs397509248
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is -;ACAGAAA: BRCA1 variant considered pathogenic for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,057,053 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;ACAGAAAMost notableBadBRCA1 variant considered pathogenic for breast cancer
- -;CAGAAAGBadBRCA1 variant; pathogenicity is currently unclear
- ACAGAAA;ACAGAAAGoodcommon in clinvar
- CAGAAAG;CAGAAAGGoodcommon/normal
- I;IGoodcommon genotype
On SNPedia: (-;ACAGAAA), (-;CAGAAAG), (ACAGAAA;ACAGAAA), (CAGAAAG;CAGAAAG), (I;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other BRCA1 SNPs
- rs28897696T;Tcarrier of two copies of BRCA1 variant; likely to be at high risk for breast/ovarian cancerVery important
- rs41286296A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625306A;CBRCA1 pathogenic mutation associated with breast cancerVery important
- rs62625307A;GBRCA1 pathogenic mutation associated with breast cancerVery important
- i6051899A;Clikely to be BRCA1 variant pathogenic for breast cancerVery important
- rs1800747C;TBRCA1 pathogenic mutation associated with breast cancerVery important
- rs28897672A;Tconsidered a pathogenic BRCA1 breast cancer variantVery important
- rs28897686A;CBRCA1 pathogenic mutation associated with breast cancerVery important
Notes
From SNPedia
Notes
rs397509248, also known as 5389del7, c.5270_5276delACAGAAA and Asp1757Glyfs, is a variant in the BRCA1 gene previously considered pathogenic for breast cancer in ClinVar; it is currently reported in ClinVar without any assertion regarding pathogenicity.
-;CAGAAAG
See details at rs397509248
Source and license
Adapted from rs397509248 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.