Anyone Know if this DNA is normal

DNA change from 185delAG to -

Refers to BRCA1 - 2 mutaions.

The only reason am asking AS other report had normal BUT this seem to have been flaged.

Some say its normal BUT am not so sure.

[SeymourB]

I'm not sure why these may be specific to this forum. I have read a couple of things about BRCA genes and blood related cancers, but they're pretty tough reading.

These mutations appear to be common in some populations, but they may not be absolutely diagnostic:

hmg.oxfordjournals.org/cont...

clinchem.aaccjnls.org/conte...

nature.com/ejhg/journal/v10...

I am assuming you bought a direct to consumer genetic test that samples SNPs, not full sequences.

Any deletion or insertion is unusual, if not outright abnormal. But note that with SNP's, a deletion or insertion at the SNP may indicate a deletion or insertion of just 1 base pair, which is usually bad, or more DNA, which might not be as bad.

If it's a deletion or insertion of a multiple of 3 base pairs - which are called codons - there's a bit less chance of significant change in the resulting protein or signalling. But you just can't tell from SNP tests. You really need to follow up with a genetic counselor or specialist to get advice and more detailed testing.

The consumer DNA testing world has raised many more fears than solutions at this point. My advice is to consult a genetic specialist, and meanwhile, look into taking some online classes in genetics to learn more. I can heartily recommend the course called Useful Genetics:

edx.org/course/useful-genet...

Best of luck!

[Hidden in reply to SeymourB]

Hi cheers am more curious .. am no expert but I think T,T denotes who I got it off T,T I think is both sides.

But you are right about variants and clinical inportance not checked for as this so many.

As to C - .. I think that denotes a change but one not tested for.

I guess that's how thay can say it's ok but this been a change I guess not tested for.

Thanks for taking time to reply and link's

[Cllcanada Top Poster CURE Hero in reply to Hidden]

This looks like 23&Me stuff... big problem... you have nobody to correctly interpret the results, if in fact they are accurate...

~chris

[Hidden in reply to Cllcanada]

Hi Cheers yer i looked into it further after Seymourb advice ANYWAY this loads of websites you can load data too if you dont mind sharing.

I would say 23and me dont really like disclosing errors but make it easy for you load data to sites that will disclose.

[SeymourB in reply to Cllcanada]

My plan with my 23andMe results has always been to follow up with a genetic counselor, and have my doctor order more in depth tests. My experience with labs in general is that they all can make mistakes, and they explain results less than 23andMe does. I've gotten bad results several times from both hospital and U.S. national chain labs. The explanations the doctor gives are usually verbal, and often lack depth.

That said, unusual results on 23andMe will not be explained as well, if at all, by 23andMe. Essentially, you are getting a half million separate tests with a 23andMe subscription. There are systematic things that can go wrong, and some small percentage of customers get different readings on a retest - just like with other labs. Errors amounts to a small fraction of a percent over billions of base pairs.

You can probably find explanations of 23andMe's notations on their forums or by opening a support case. I haven't been too impressed by their support, though.

The way I interpret your result is that at least one strand has the deletion or insertion, but it's most probably both strands, because of how DNA gets copied. These are probably germline mutations found in Ashkenazim or their relatives.

The many 3rd party web sites that claim to interpret results are very cloudy, and lack oversight. You get, in some cases, 1 person's assumptions and very incomplete research. The articles they link to may not be representative of the current discussions about a particular marker. Do take a course, and learn how this all works. Caveat emptor.

In the worst cases, such sites may try to sell products or analysis allegedly based on results. I think a few dollars in order to run a non-profit site may be fair, but any more than that is a scam.

=seymour=

[Hidden in reply to SeymourB]

Hi This a site called promethease that talks more about errors mutations when decoding DNA

[SeymourB in reply to Hidden]

I've tried it a few times. He does improve it, but his simple division between good and bad is often debatable.

SNPedia is a great thing ... as long as you understand the limitation of SNPs and GWAS (Genome Wide Association Studies). There are statistics, but you are unique. The differences in base pairs around the SNPs can be quite important - but you won't see them in a 23andMe sample. That's why it's better to do exome or full sequencing if you have any concerns about false positive or false negatives.

=seymour=

[Hidden in reply to SeymourB]

Hi Cheers defo agree about all diffrant when it comes to dna.

Is all confusing really AND is lot of unknows.

Only way i think i can wade threw quagmire is personal experianceswith regard know diseases

My results in relation to risk and disease as shown few links but its like trying to pin tail on donky.

Thus far looking at my wart on nuuckle that is caused hpv virues i think that as a lot to do with mutations am seeing and whats going on.

I think there is a connection with Brac1 Bap1 and thats what am seeing play out

[SeymourB in reply to Hidden]

You need to see a doctor to follow up on all this. It's too much for a non-scientists to interpret. You may find that younger doctors are more willing to look at your report, but don't be surprised if they refuse to take it seriously. Stress to them that you want additional testing to confirm results and connection to specific symptoms you have.

=seymour=

[Hidden in reply to SeymourB]

Hi defo agree with you as to doctors.

I started badgering my doctor about antibiodes saying i wanted further test AND it was only then he admited i had issues that do warrent further investagations.

Then starred talking about antibody injections.