rs28897759
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is A;T: BRCA2 variant, possibly causal mutation but not definite
- Gene
- BRCA2
- Location
- Chr 1332,394,803 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;AGoodcommon in complete genomics
- A;TMost notableBadBRCA2 variant, possibly causal mutation but not definite
On SNPedia: (A;A), (A;T). 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
Show notes, about 120 words
BRCA2 Asn3124Ile or N3124I mutation; aka c.9371A>T. The significance is unclear; it is not listed as a causal mutation for breast cancer in UMD, and there is conflicting evidence in ClinVar, with some labs indicating it is pathogenic but others reporting it is of unknown significance. This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. Classified as a BRCA2 gene pathogenic mutation for breast cancer based on likelihood in . Note that both ExAC and ClinVar also mention c.9371A>G (p.Asn3124Ser), but the pathogenicity of this variant is not reported.
A;T
see discussion at rs28897759.
Source and license
Adapted from rs28897759 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.