JAK2 V617F somatic mutation

Hello, a family member has the JAK2 V617F somatic mutation.

Here is an article on how your DNA can give you an increased chance for a somatic mutation.  I have a PDF of the full article;

New Genetic Findings for Rare Blood Cancers



Notes from the article;

  1.  A five to seven fold increase of MPN development was identified in first-degree relatives of patients with MPN.
  2. A germline haplogroup, GGCC or 46/1, in a section of the JAK2 gene is associated with a three to four fold increase risk of developing a V617F MPN.


And a video;


Individual SNPs associated with the JAK2 V617F mutation, these may be called V617F carriers.

rs59384377 = JAK2 46/1 haplotype

rs7705526 = TERT gene

rs7310615 = SH2B3

rs1548483 = upstream of TET2






I recently was tested on the 23andMe site.  A secondary goal is to look at families that share my Y DNA haplogroup, R1b1b2a1a1d.  One part of this is to compare the results, base by base.

I compared my Y to a couple of others of the same haplogroup, and found a lot (40 – 60) differences on individual bases.  Below is a note I sent to 23andMe and their response;


Request #293432” — ” or ” I ” in raw data phenotypes

  • Ted Poppke


    I’m browsing through raw data in my Y DNA and am seeing a ” — ” or ” I ” in raw data phenotypes. When comparing with other R1b1b2a1a1d haplogroup individuals, I’ll get 40 to 60 such differences between to people.

    What is the source of this?



  • Rachel

    Hello Ted,

    Thank you for contacting the 23andMe Team. 23andMe tests for a number of genetic variations representing places in the genome where one or more DNA letters, or “bases”, may be inserted or deleted. These are reported in the raw data as “I” for insertion and “D” for deletion. Both “I” or “D” can represent the normal version of a variant, that is, which version is normal varies depending on the location. Note that a “–” in your raw data is a no call, or a variant for which a confident determination cannot be made.

    For example, if most people have a “G” at a location in the genome but a few people are missing the “G”, then an “I” at that location represents the typical state of having a “G” while a “D” represents the rare deletion, or lack of a “G”. On the other hand, if a few people have an extra “G” at a location in the genome but most people don’t have it, then the opposite is true — an “I” represents the rare insertion of an extra “G” while a “D” represents the typical state of not having that “G”.

    23andMe does not test for all possible insertions or deletions. In general, the ones that we do test for are small, spanning only one or a few bases. Larger insertions and deletions are not easily detected by our genotyping technology, though there may be some exceptions.

    We hope this is helpful for you. Please let us know if you have any additional questions.

    Best Regards,

    The 23andMe Team