rs28897743

A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is A;G: considered a causal BRCA2 breast cancer mutation

Gene
BRCA2
Location
Chr 1332,346,896 (GRCh38)
Highest magnitude
6.0Very important
Tested on
23andMe, FamilyTreeDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadconsidered a causal BRCA2 breast cancer mutationVery important · 6.02% of people
  2. C;GBadBRCA2 variant considered pathogenic for breast cancerVery important · 6.00% of people
  3. G;GGoodcommon in clinvarTypical · 0.098% of people
  4. G;TBadBRCA2 variant considered pathogenic for breast cancerVery important · 6.00% of people

On SNPedia: (A;G), (C;G), (G;G), (G;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 8 HapMap populations.

  • AverageA;G 2% C;G 0% G;G 98% G;T 0%
  • European ancestry (Utah)A;G <1% C;G 0% G;G 99% G;T 0%
  • Han Chinese (Beijing)A;G 2% C;G 0% G;G 98% G;T 0%
  • Japanese (Tokyo)A;G 3% C;G 0% G;G 97% G;T 0%
  • Yoruba (Nigeria)A;G 1% C;G 0% G;G 99% G;T 0%
  • African ancestry (Southwest US)A;G 2% C;G 0% G;G 98% G;T 0%
  • Chinese (Denver)A;G <1% C;G 0% G;G 99% G;T 0%
  • Luhya (Kenya)A;G 2% C;G 0% G;G 98% G;T 0%
  • Mexican ancestry (Los Angeles)A;G 5% C;G 0% G;G 95% G;T 0%

Conditions, medicines and genes

Notes

From SNPedia

Notes

rs28897743, also known as 7235G>T, c.7007G>T and p.Gly2313AlafsX31, as well as Arg2336His or R2336H, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar and UMD. 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. 23andMe has another SNP for this position, named i5009343.

A;G

see citations at rs28897743

G;T

See details at rs28897743

Source and license

Adapted from rs28897743 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.