23andme's explainer for this is actually pretty good. https://www.23andme.com/brca/
They only have FDA approval to report results for 3 of the most common (especially in Ashkenazi Jews), severe, and well-studied BRCA1/2 variants, even though their chips are testing for hundreds of other variants that they can't report the results for without further FDA approvals. Those results for the other variants still show up in your raw data, and Promethease will report them to you.
If I were you, I would take the Promethease result to my doctor, who could advise if clinical testing is necessary to confirm your BRCA2 status, and what, if any, preventative strategy you should take. Keep in mind that there are thousands of variants in BRCA1/2, and not all have been well-studied yet like the three that 23andme reports on. They range widely in how strongly they are associated with cancer, and the error bars are still large - having one doesn't definitively mean cancer is in your future. On the other hand, 23andme is only testing for hundreds of the thousands of total possible variants, so even people that have no variants show up in their 23andme raw data could still have a variant in their BRCA1/2 genes. Talking to a doctor, or even better a genetic counselor, is the best way to figure out if there's any action you should take based on these results.
I means Insertion (at 23andMe) D means Deletion (at 23andMe) - also means Deletion and is an older standard found in genetics/bioinformatics.
https://www.23andme.com/you/explorer/snp/?snp_name=rs28357092 will show you that both of the Mendels have II.
http://www.snpedia.com/index.php/Rs28357092 will tell you that (I;I) is magnitude 0 and good (aka normal)
Since the actual letter of the insertion is C, this is also written as (C;C) and that's normal.
I believe the first one is rs758218892 for the seconds one I've not been able to find a dbSNP identifier. 23andMe tests these 13 snps https://www.23andme.com/you/explorer/gene/?gene_name=ETFDH I suspect both of your mutations of interest are not there, but it's possible they might be the i# snp.
it's late, maybe someone else will jump in before I can reconsider this tomorrow.
Forget SNPedia for a moment, and look at https://www.23andme.com/you/explorer/snp/?snp_name=rs738409 Both of the Mendels are CC. Presumably you and your whole family is as well.
ok, now add SNPedia into the mix. As shown on the SNPedia page, this is 'stabilized orientation'=minus . So it gets flipped and becomes GG when looking it up in SNPedia. which is the most common genotype.
The most common genotype would be called TT at 23andMe.com AA in SNPedia and promethease reports.
if https://www.23andme.com/you/explorer/snp/?snp_name=rs17580 says TT, you're normal.
I've corrected the text at https://www.snpedia.com/index.php/Alpha-1_antitrypsin_deficiency
determining some blood types can be quite complicated, others are easy. Your type-O blood is one of the easy cases.
https://www.23andme.com/you/community/thread/20076/ and https://www.23andme.com/you/community/thread/121/
explain some of the more difficult cases
Totally agreed. This was discovered 24h ago in a 23andMe discussion thread (end of page 1) and corrected about 90 minutes later (see the first 2 messages on page 2).
Just a few minutes ago I finished identifying all the people affected by this, and an email will go out to them in the next few hours.
repasting the explanation from that thread:
The error was introduced into SNPedia 5 days ago http://www.snpedia.com/index.php?title=I5039483(D;D)&action=history
but due to the way the cache is updated, Promethease reports began being affected shortly after midnight Friday July 25th EST and were corrected Monday July 27th at 11:30p.
How did this happen: i5039483 is located just one nucleotide away from rs62643632 (which is a Von Willebrand's type 3 mutation), and both occur in a contiguous run of C's or G's. i5039483 is on the plus strand, while the rs62643632 is on the minus strand, making the C vs G issue quite error prone.
Neither 23andMe nor Illumina (the DNA chip manufacturer) at this time to reveal the details of what the i### SNPs assay, so we have to manually establish the correspondence to rs###s and the published literature. We're careful, but not perfect, and feedback from users like you is invaluable for quality control.
I have this too and I've been taking L-methylfolate that I get from Amazon for about two years (https://www.amazon.com/gp/product/B01MZ7IB2G/ref=oh_aui_search_asin_title?ie=UTF8&psc=1). I was actually able to go off my Adderall (which I do not recommend without first talking to your provider) which I had been taking for years due to my mild ADHD. Dietary folate is used in many different metabolic pathways, including the formation of the neurotransmitters serotonin, dopamine, and norepinephrine. It's possible that by taking L-methylfolate and bypassing the defective MTHFR enzyme, I am now able to generate the correct level of neurotransmitters. I can't speak to the general success of this in other individuals, but I personally feel much, much better and a lot of my anxiety and depression, which was coupled to the taking of Adderall, has since gone away.
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I couple this with checking food labels for synthetic folic acid (enriched bread, usually) and avoiding them. The reason I do this is because when synthetic folic acid isn't broken down in the body by defective MTHFR into it's subsequent metabolites, it is my understanding that the byproducts can aid in the toxic buildup of homocystine levels (whether or not this is occurring for you can be checked by your doctor via a homocystine level blood test). These can have negative side effects such as an elevated risk of heart disease. I believe that the byproducts natural folate (such as those found in citrus, greens, eggs, etc.), if not broken down, does not have the acid attached to it and therefore leaves your body in your urine.
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Please correct me if you find any errors in my understanding, but this is what I've been doing for a while and I feel great!
I have homozygous mutations at COMT Val158Met (aka rs4680 aka Warrior/Worrier SNP). It is one of the most studied SNPs vis a vis personality. It is a marker of extraversion, introversion and ambiversion. Looks like you are AA there. Do you experience yourself as introverted? I'd start studying it on SNPedia and zeroing in on any of the studies that seem relevant. I see a MD who practices Integrative Medicine. He uses this chart in his practice. He took one look at my results and suggested Lithium Orotate 5 mg once a day with breakfast for COMT V158M. MAO-A I'm wild type GG ,but I do have some suggestions. You are heterozygous for one of the high homocysteine mutations MTHFR A1298C so you might want to have your homocysteine tested. (I'm heterozygous for MTHFR C677T and have very high homocysteine untreated). If your homocysteine is high, you might want to take a supplement containing balanced folate (not folic acid), B-12 and B-6 such as Metanx. Also take B-2 for your MAO-A rs6323 mutation. Or a good B-complex. Last but not least, for your VDR Bsm mutation which I also have, you may want to take Vit D in the am before breakfast like my Integrative Medicine MD has me do. He has me take it as an emulsion, Bio-D-Mulsion Forte. The way he has me take it is to about 30 minutes prior to eating. squeeze three little drops on my wrist and lick them off. Here it is on Amazon: https://www.amazon.com/Biotics-Research-Bio-D-Mulsion-Forte-Vitamin/dp/B004HGF69I Hope this helps! btw I'm not bi-polar, so you might want to run my suggestions by the MD who is treating you.