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;
A five to seven fold increase of MPN development was identified in first-degree relatives of patients with MPN.
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 just found a cousin with the NKX2-1 gene mutation. This can be linked with different cancers and developmental issues.
Using SNPedia.com, there are eleven genes associated with this mutation;
Chromosome position RiskGeno
Rs137852692 36,517,781 Rs137852692(T;T)
Rs137852693 36,517,871 Rs137852693(C,T;C,T)
Rs137852694 36,517,739 Rs137852694(T;T)
Rs28936671 36,517,757 Rs28936671(A;A)
Rs28936672 36,517,771 Rs28936672(T;T)
Rs387906404 36,517,576 Rs387906404(;)
Rs587776707 36,517,812 Rs587776707(CC;CC)
Rs587776708 36,518,022 Rs587776708(A,C;A,C)
Rs587776709 36,519,104 Rs587776709(C;C)
Rs863225300 36,517,960 Rs863225300(A;A)
The 23andMe.com DNA tests check two of the sites:
Poppke Felchle DNA
I’m trying to find our Poppke grandfather’s family through DNA analysis.
We currently have four Poppke grandchildren tested and on GedMatch.com.
For Poppke elimination, we have a Felchle 2nd cousin and a 2nd cousin one removed.
These posts will look at the evidence one chromosome at a time.
For Chromosome 1, if you look just at the four Poppke grandchildren, there are several areas where one first cousin matches with one other first cousin. But nothing greater than that. On chromosome 1, the matches appear to be good with the Felchle family side.
A Poppke grandchild matching with two Felchle 2nd cousins on
Two Poppke grandchildren matching with a Felchle 2nd cousin on
Gurr and Lynn family matches in DNA!
Busy checking genes on 23andMe dot com.
Found a good match with a 2nd cousin, once removed
Here is what we share;
Look me up on
Gedmatch dot com.
Kit number M008391.
On the maternal side, we have good family trees going back to Europe.
Laib DNA can be seen in distant cousins that are confirmed in genealogy and then also match genetics;
Chromosome Start point End point Genetic distance # SNPs
Person 1 and I:
Chrom Start and End Dist SNPs
17 70000000 75000000 10.6 cM 1117
19 28000000 46000000 23.5 cM 3131
Person 2 and I;
1 102000000 110000000 8.0 cM 1379
2 236000000 240000000 9.6 cM 1137
17 38000000 48000000 9.3 cM 1688
19 39000000 46000000 10.1 cM 1218
It looks like the segments on Chromosomes 17 and 19 would be good indicators of a Laib cousin relationship.