rs397507761
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is -;TATG: BRCA2 variant considered pathogenic for breast cancer
- Gene
- BRCA2
- Location
- Chr 1332,339,501 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;TATGMost notableBadBRCA2 variant considered pathogenic for breast cancer
- TATG;TATGGoodcommon in clinvar
- TGTA;TGTAGoodcommon in clinvar
On SNPedia: (-;TATG), (TATG;TATG), (TGTA;TGTA). 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
Notes
rs397507761, also known as c.5146_5149delTATG and p.Tyr1716Lysfs, represents a rare variant in the BRCA2 gene. Multiple ClinVar submitters consider the minor allele of this SNP pathogenic for breast cancer, and it is also a founder mutation in some populations (for example, Spain).
-;TATG
see discussion at rs397507761.
Source and license
Adapted from rs397507761 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.