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i5010570(D;I)

From SNPedia
likely to be BRCA2 variant pathogenic for breast cancer; however, false positives are quite possible
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ofI5010570
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Geno Mag Summary
(D;I) 6 likely to be BRCA2 variant pathogenic for breast cancer; however, false positives are quite possible

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 3 fold higher than the average pathogenic BRCA2 genotype, and (2) we've had several Promethease users report having this genotype in their 23andMe data, but 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).