rs41293477
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is G;T: BRCA2 variant considered pathogenic for breast cancer
- Gene
- BRCA2
- Location
- Chr 1332,337,513 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- G;TMost notableBadBRCA2 variant considered pathogenic for breast cancer
- T;TGoodcommon in clinvar
On SNPedia: (G;T), (T;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
- rs41293489C;GBRCA2 variant considered pathogenic for breast cancerVery important
- rs41293497A;Cconsidered a causal BRCA2 breast cancer mutationVery important
Notes
From SNPedia
Notes
rs41293477, also known as L1053X, c.3158T>G, 3386T>G and p.Leu1053Ter, is a variant in the BRCA2 gene. The rare variant allele is considered pathogenic for breast cancer by three submitters to ClinVar.
G;T
ClinVar lists this BRCA2 SNP's minor allele as pathogenic for breast cancer, based on multiple submissions, however, it does not show up on the list of causal BRCA2. mutations maintained by the UMD.
Source and license
Adapted from rs41293477 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.