rs80359675
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is -;TCAAA: BRCA2 variant considered pathogenic for breast cancer
- Gene
- BRCA2
- Location
- Chr 1332,331,008 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;TCAAAMost notableBadBRCA2 variant considered pathogenic for breast cancer
- CAAAT;CAAATGoodcommon in clinvar
- TCAAA;TCAAAGoodcommon in clinvar
On SNPedia: (-;TCAAA), (CAAAT;CAAAT), (TCAAA;TCAAA). 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
rs80359675, also known as 999del5, c.771_775delTCAAA and p.Asn257_Arg259?fs, is a variant in the BRCA2 gene considered pathogenic for breast cancer in ClinVar.rs80359675, aka 999del5, represents a 5bp deletion in the BRCA2 gene on chromosome 13. An alternative rs# for this same deletion is rs80359671. The BRCA2 999del5 deletion has been associated with significantly increased risk for breast cancer as well as some other cancers, at least in certain populations. For more information, see OMIM 600185.0010. 23andMe appears to have renamed this SNP as either i4000466, i5009236, i5053894 and/or i5009235. For the sake of 23andMe customers, it would be great if someone with insider knowledge of what exactly each of these represents would contact us.
-;TCAAA
See details at rs80359675.
Source and license
Adapted from rs80359675 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.