rs41293497
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is A;C: considered a causal BRCA2 breast cancer mutation
- Gene
- BRCA2
- Location
- Chr 1332,340,037 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe
Genotypes
As shown in 23andMe and AncestryDNA files.
- A;CMost notableBadconsidered a causal BRCA2 breast cancer mutation
- 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.
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 130 words
rs41293497 is a BRCA2 gene variant, with at least two variant alleles: C>G and C>A. [The C>T variant is also possible, however it is a synonymous change that is considered benign.] Alternative names for the pathogenic alleles include Tyr1894Ter, Y1894X, 5910C>G, and 5910C>A. Both the C>G and C>A variants are listed as causal breast cancer mutations in UMD, and as pathogenic by most submitters to ClinVar. 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. In addition to presenting rs41293497, 23andMe has an additional C>G SNP at this position known as i5009383 on some of its microarrays.
A;C
see citations at rs41293497.
C;G
see discussion at rs41293497.
Source and license
Adapted from rs41293497 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.