rs80357595
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is -;TA: BRCA1 variant considered pathogenic for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,093,453 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;-Goodcommon in clinvar
- -;TAMost notableBadBRCA1 variant considered pathogenic for breast cancer
- D;INot ratedIf from Ancestry DNA, likely to be a miscall
- I;INot ratedIf from Ancestry DNA, likely to be a miscall
On SNPedia: (-;-), (-;TA), (D;I), (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
rs80357595, also known as 2196insTA, c.2077_2078insTA and p.Asp693?fs, is a variant in the BRCA1 gene considered pathogenic for breast cancer in ClinVar.
-;TA
See details at rs80357595.
D;I
Users with raw data from Ancestry.com have an overly high rate of miscalls for this BRCA1 genotype. If your data is not from Ancestry.com, please contact us.
I;I
Users with raw data from Ancestry.com have an overly high rate of miscalls for this BRCA1 genotype. If your data is not from Ancestry.com, please contact us.
Source and license
Adapted from rs80357595 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.