rs397507713
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is G;T: BRCA2 variant considered likely to be pathogenic for breast cancer; see discussion though
- Gene
- BRCA2
- Location
- Chr 1332,325,184 (GRCh38)
- Highest magnitude
- 5.9Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;GBadBRCA2 variant of uncertain significance
- G;GGoodcommon in clinvar
- G;TMost notableBadBRCA2 variant considered likely to be pathogenic for breast cancer; see discussion though
On SNPedia: (A;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
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
rs397507713 represents two different BRCA2 gene variants: c.425G>T and c.425G>A. c.425G>T (p.Ser142Ile and S142I) is considered likely to be pathogenic for breast cancer in ClinVar; however, Myriad (now) considers it to be of uncertain significance, and it is the subject of a 2019 Wall Street Journal article discussing a family carrying this variant and their related medical decisions. c.425G>A (p.Ser142Asn or S142N) is annotated in ClinVar as of uncertain significance (and Myriad declines to reveal the status in their private database).
A;G
See discussion at rs397507713; it is not clear if this is a pathogenic mutation according to ClinVar.
Source and license
Adapted from rs397507713 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.