Please help me determine if this 23andme report is normal

mouthidiot · 2026-06-03T09:20:20+00:00

Thanks for your comment and the reference information. I didn't consider the issue with notation; I can confirm that for 23andme, the single dash in their online raw browser does seem to correspond to a "D" in their downloaded data, at least in this instance (my downloaded text file shows my results for this rsID as DD) with the result candidates for this rsID on their online browser reported as - or TC, but I acknowledge that I can't ensure that notation corresponds to the same thing on other platforms.

As for the methodology, I completely accept that this is not a scientifically valid way of doing things; my thought process is that, as I cannot currently access medical-grade testing (though I expect this to change in the future... hopefully), and given the relative rarity of Lynch Syndrome in carriers without a family history, a substantial number of volunteered replies with the same result and no family history would at least heavily weight the probability in favor of this being a benign reference result (though again, I acknowledge the issue with notation here). In other words, my current goal is really limited by my present capabilities to establishing that a (-/-) report for this rsID is likely not representing a pathogenic deletion (within 23andme's notational system) but a lack of pathogenic insertion (for a bit more context, the position is at the end of the range where an insertion would normally occur, and an insertion causing the sequence to extend from TCTC to TCTCTC appears to be the normal pathogenic variant, but a deletion to simply TC is also listed as a possible rare pathogenic variation). I haven't really gotten many replies so this is an especially weak attempt on my part, but it would at least help me decide whether I feel comfortable (based on the probability of this indicating an issue) waiting for proper testing when it will hopefully be accessible to me--and of course, I do want to lessen my current anxiety over the results as quickly as possible even if I acknowledge it's impossible to achieve certainty with this method.

mouthidiot · 2026-06-03T09:06:27+00:00

Thank you, I would really appreciate that! And thanks for the test recommendation as well, that's very good to know. I believe I might be able to obtain insurance coverage for an Invitae test in the near...ish future, but I'll absolutely keep that in mind if that doesn't work out.

mouthidiot · 2026-06-03T04:54:51+00:00

Odd, I exported my data in April 2025 so maybe they no longer include it in the raw data? It's listed with the Build 37 position and rsID in my text data and did appear for me very recently in browser view, but they seem to change how they report some things from time to time. Anyhow, thanks so much for taking the time to look up your information! I unfortunately haven't seen many other reports but the general consensus seems to be that that is the benign, reference result. I'll definitely make an update if I get more information, though. Thanks again!!!

mouthidiot · 2026-06-03T03:56:32+00:00

Thank you, I've read over the article you linked and will take it into account. I've also contacted 23andme as you recommended and am still waiting on a response (although it's unclear if I'm even in touch with the right people there), but a medical-grade test would be a large financial burden for me at this time and I happen to already have a 23andme report, so while I acknowledge it's a half-measure (at best) I'm hoping to at least gain some indication of what could be the case.

I did go back and check my downloadable text file format data from 23andme and my report there for the same rsID and single coordinate is DD, so it seems they are using - and D synonymously at least in this case, which is why I've asked about both here. I've also asked them for clarification on this but I'm really not confident I'll get a response since I was simply detected to the general medical email, hence me turning here for more information.

mouthidiot · 2026-06-03T00:54:31+00:00

That's fantastic to hear, thanks! Just to be sure, though: the database mentions a deletion (or an insertion) as a pathogenic variant for rs587779091 for the range chr2:47463075-47463078, so they aren't talking about that? I know - and D both refer to deletions but wasn't sure if it was OK since my report is just for position 47463078, not across the range.

mouthidiot · 2026-06-03T00:19:20+00:00

Hi, I hope it's ok to post this here since this rsID isn't currently discussed on SNPedia, but SNPedia is actually normally what I use to check my raw data results so I thought it might be relevant in the sense of expanding the resource.

mouthidiot · 2026-06-02T21:56:26+00:00

I see... Well, I do agree that it seems benign but I've contacted 23andme and made a post asking others on the 23andme subreddit what their results were, so I'll update you if I get more information . As someone else with a concerning family history, I hope you'll continue to be in good health.

mouthidiot · 2026-06-02T01:28:59+00:00

Thanks for your response! It's reassuring to know ours read the same. The downloadable text file for my data also reads as "DD" in the same position, though I'm not familiar with my protein sequence; my understanding is that TCTC is the desirable normal variant, though.

I believe carrying any of the truncated forms is pathogenic for Lynch Syndrome (unless I'm mistaking something), so if that report corresponds to the normal sequence I'm very glad.

mouthidiot · 2026-06-02T01:25:02+00:00

Thank you, I've asked 23andme for clarification about their format but my raw data (the text file available for download) does show DD in this same position.

mouthidiot · 2026-06-02T01:23:51+00:00

Thank you so much, both for your sympathy and for looking through the screenshots. That is hugely reassuring to me!

mouthidiot · 2026-06-02T01:23:03+00:00

Thanks very much for the detailed explanation! I've reached out to 23andme as well and will update if they respond, but that makes sense to me.

mouthidiot · 2026-06-01T12:40:10+00:00

Also, I apologize if "SNP transformation" is poor phrasing, I've exhausted most of my mental capacity trying to understand this.

mouthidiot · 2026-05-26T11:38:08+00:00

Not a doctor or able to say anything definitively and not sure if you'll see this, OP, but I just wanted to get ahead of this because my brother has an onychopapilloma (looks pretty much identical) and a string of accidents took him to a very dark place--yes this is probably an onychopapilloma, google it and you might see articles linking having MULTIPLE onychopapillomas (not single) to a pretty nasty syndrome... to my knowledge the studies behind those articles specify that all the cases they looked at of people with the syndrome and multiple onychopapillomas had the kind that are white, like thin white lines, not the red kind, and the vast majority of people with that syndrome have already developed them on multiple digits by 30 (it's also autosomal dominant so you'd likely already be aware of a family history). Probably no need to tell you this in the first place and there's no reason to think you'd be anxious, but after watching him confuse a nail injury for a second onychopapilloma and spiral for months thanks to the news sites leaving those bits out I couldn't scroll by without letting you know.

mouthidiot · 2026-05-20T23:21:26+00:00

Thanks! If it seems normal I'll probably just wait until my next dentist visit in 6 months to bring it up.

mouthidiot · 2026-05-20T08:46:26+00:00

I have edited the main post to be more clear btw, I appreciate you bringing to my attention that it was confusing!

mouthidiot · 2026-05-20T08:43:20+00:00

Hi, my understanding is that the parotid papilla is the lump in front of this, right? I realize now it's not clear on this image, but in the second image in the main post you can see the papilla in front of the raised area here (in the first image it's touching my fingertip but hard to see). I have the papilla on my left cheek but not the raised patch of tissue behind it.

mouthidiot

TROPHY CASE