rs80358740
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is A;C: BRCA2 variant considered pathogenic for breast cancer
- Gene
- BRCA2
- Location
- Chr 1332,339,514 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadBRCA2 variant considered pathogenic for breast cancer
- C;CGoodcommon in clinvar
- C;GBadLikely miscall in Ancestry data; otherwise, BRCA2 variant considered pathogenic for breast cancer
On SNPedia: (A;C), (C;C), (C;G). 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
rs80358740 represents two "S1720X" (p.Ser1720Ter) variants in the BRCA2 gene: c.5159C>A, and, c.5159C>G. Both variants are assessed in ClinVar by panels of experts as pathogenic for breast cancer.
A;C
See details via ClinVar link on main SNP/rs# page.
C;G
See details at rs80358740; note though that Promethease statistics now indicate a >10x miscall (false positive) rate in Ancestry data and has also received reports from three users (one with 23andMe data and two with Ancestry data) indicating that this genotype was not confirmed when checked using a clinically validated test.
Source and license
Adapted from rs80358740 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.