rs80357713
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is -;AG: rare BRCA1 variant, of unclear pathogenicity
- Gene
- BRCA1
- Location
- Chr 1743,124,030 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
On SNPedia: (-;-), (-;AG). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
rs80357713, also known as c.66_67insAG, represents a 2 nucleotide insertion variant in between GRCh37 position 17:41276047-8. Technically, at the sequence level this changes GGACACTCTAA to GGACACCctTAA, where the lower case "ct" indicates the variant insertion. The pathogenicity of this rare mutation is not reported in ClinVar and dbSNP. In the BIC database, rs80357713 appears to be incorrectly reported as being the "185delAG" mutation, which is actually correctly represented as either rs386833395 or rs796856605.
-;AG
See details at rs80357713
Source and license
Adapted from rs80357713 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.