rs80357389
A SNP in the BRCA1 gene on chromosome 17. Its most notable genotype is C;T: BRCA1 variant considered pathogenic for breast cancer
- Gene
- BRCA1
- Location
- Chr 1743,076,488 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;TMost notableBadBRCA1 variant considered pathogenic for breast cancer
- C;GBadBRCA1 variant considered pathogenic for breast cancer
- C;CGoodNormal
- A;CBadBRCA1 variant considered pathogenic for breast cancer
SNPedia records rs80357389 on the minus strand: (A;G), (C;G), (G;G), (G;T). 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
rs80357389 represents a rare variant in the BRCA1 gene. It is also rare in that all three possible alternative alleles are known, and, all three are reported to be pathogenic for breast cancer in ClinVar. The major (normal) allele is rs80357389(G). The three alternatives are c.4484G>A (R1495K), c.4484G>C (R1495T), and c.4484G>T (R1495M). Note that in (older) publications, due to numbering differences, c.4484 was described as c.4603.
C;T
See details at rs80357389.
C;G
See details at rs80357389.
A;C
See details at rs80357389.
Source and license
Adapted from rs80357389 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.