rs144848
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is C;C: very slightly increased breast cancer risk
- Gene
- BRCA2
- Location
- Chr 1332,332,592 (GRCh38)
- Highest magnitude
- 2.0Worth knowing
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- 24%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- C;CMost notableBadvery slightly increased breast cancer risk
- A;CBadvery slightly increased breast cancer risk
- A;AGoodnormal
SNPedia records rs144848 on the minus strand: (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 11 HapMap populations.
- AverageC;C 4% A;C 37% A;A 59%
- European ancestry (Utah)C;C 8% A;C 49% A;A 43%
- Han Chinese (Beijing)C;C 7% A;C 38% A;A 56%
- Japanese (Tokyo)C;C 7% A;C 36% A;A 57%
- Yoruba (Nigeria)C;C <1% A;C 16% A;A 83%
- African ancestry (Southwest US)C;C 0% A;C 12% A;A 88%
- Chinese (Denver)C;C 5% A;C 52% A;A 43%
- Gujarati IndianC;C 7% A;C 46% A;A 48%
- Luhya (Kenya)C;C 0% A;C 20% A;A 80%
- Mexican ancestry (Los Angeles)C;C 4% A;C 54% A;A 42%
- Maasai (Kenya)C;C 5% A;C 39% A;A 57%
- TuscanC;C 6% A;C 41% A;A 53%
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 170 words
This SNP, a variant in the BRCA2 gene, is 1 of 25 SNPs reported to represent independently minor, but cumulatively significant, increased risk for breast cancer. For details of all 25 SNPs in this group, along with the two methods used to calculate overall risk estimates for breast cancer, refer to the SNPedia breast cancer entry. For this particular SNP, the risk (minor) allele is (G), encoding the His; the SNP is also known as N372H or Asn372His. In a separate study, rs144848(G;G) homozygotes were determined to have a 1.31x increased risk (CI: 1.07-1.61) for breast cancer greater risk compared to (T;T) genotypes. Interestingly, in normal females of all ages there is a significant deficiency of homozygotes compared with that expected from Hardy-Weinberg equilibrium, whereas in males there is an excess of homozygotes (with an estimated fitness of 0.82 in females and 1.38 in males). This implies that rs144848 affects fetal survival in a sex-dependent manner. * See also Omim 113705.0013
Source and license
Adapted from rs144848 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.