i5010570

A SNP. Its most notable genotype is D;I: Very likely to be a false positive (miscall) in 23andMe data; would be a BRCA2 variant pathogenic for breast cancer if it were accurate

Gene
None listed
Highest magnitude
6.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. D;IMost notableBadVery likely to be a false positive (miscall) in 23andMe data; would be a BRCA2 variant pathogenic for breast cancer if it were accurateVery important · 6.0

On SNPedia: (D;I). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 170 words

For information about causal/pathogenic BRCA2 mutations and what they imply about the odds of developing breast cancer, please see the BRCA2 page and links from that page.

D;I

Although named differently by 23andMe, this SNP is supposed to represent rs80359747, a BRCA2 gene mutation pathogenic for breast cancer. However (1) we see that the frequency of pathogenic genotypes reported for this mutation in Promethease reports from 23andMe users is probably at least 10 fold higher than the average pathogenic BRCA2 genotype, and (2) we've had multiple Promethease users report having this genotype in their 23andMe data, yet not replicating when validated with a clinical test. Information about one such case is visible at https://www.reddit.com/r/23andme/comments/53ay25/23andme_raw_data_accuracy_promethease_analysis/. If this genotype occurs in your Promethease report info@promethease.com would very much like to hear from you. We also suggest clinically validated testing to confirm (and we are interested in hearing the results of that too).

Source and license

Adapted from i5010570 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.