rs80359671
A SNP in the BRCA2 gene on chromosome 13. Its most notable genotype is -;CAAAT: BRCA2 variant considered pathogenic for breast cancer
- Gene
- BRCA2
- Location
- Chr 1332,331,004 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- AncestryDNA
Genotypes
As shown in 23andMe and AncestryDNA files.
- -;CAAATMost notableBadBRCA2 variant considered pathogenic for breast cancer
- -;TCAAABadBRCA2 variant considered pathogenic for breast cancer
- CAAAT;CAAATGoodcommon/normal
On SNPedia: (-;CAAAT), (-;TCAAA), (CAAAT;CAAAT). 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
rs80359671, also known as 995del5, c.767_771delCAAAT and p.Thr256_Asn257?fs, represents a 5bp deletion in the BRCA2 gene considered pathogenic for breast cancer in ClinVar. An alternative rs# for this same deletion is rs80359675. 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; this mutation is also considered a founder mutation among people from Iceland. For more information, see OMIM 600185.0010.
-;CAAAT
See details at rs80359671.
Source and license
Adapted from rs80359671 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.