rs4987049
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 1332,398,437 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadBRCA2 variant considered pathogenic for breast cancer
- C;CGoodcommon in clinvar
- C;GBadBRCA2 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.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageA;C 0% C;C 100% C;G 0%
- European ancestry (Utah)A;C 0% C;C 100% C;G 0%
- Han Chinese (Beijing)A;C 0% C;C 100% C;G 0%
- Japanese (Tokyo)A;C 0% C;C 100% C;G 0%
- Yoruba (Nigeria)A;C 0% C;C 100% C;G 0%
Related
Conditions, medicines and genes
Other BRCA2 SNPs
- i5009091D;Ilikely to be BRCA2 variant 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
- rs41293497A;Cconsidered a causal BRCA2 breast cancer mutationVery important
Notes
From SNPedia
Notes
rs4987049, also known as c.9924C>G or p.Tyr3308Ter, is a rare mutation in the BRCA2 gene. The minor/rare allele is considered pathogenic for breast cancer in ClinVar.
A;C
See details via ClinVar link on main SNP/rs# page.
C;G
see rs4987049.
Source and license
Adapted from rs4987049 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.