I have found this mutation (silent - non-clinically significant) which I'd like to submit to dbSNP and get an ID. I have never submitted any variants to dbSNP. I guess I'm supposed to submit the findings in this 'VCF' template (attached). The template itself provides an example, but it's not really helping.
In my case, we've screened 9 patients (automated Sanger sequencing, using BigDye) and chromatograms were aligned to the RefSeq to see if there was any difference in our gene of interest. What we found was there was this substitution (no impact on protein translation) in one patient which I believe is a novel variant (couldn't find it on the database).
Can someone please help me filling the attached template according to my requirements?
Any help would gratefully be received.
Harindra
Hi Harindra,
I believe you will need to reconfirm the variation through more than one method. Also, you will need to look for the variation in at least 50 controls (arbitrarily speaking), to see the frequency distribution of the variation.
Good Luck.
Hello Harindra,
That is good finding. There are many databases were you can submitt your finding even if is in one patient. But for dbSNP I think it is better to put you sequence in FASTA file. Go please to the web page and follow their instruction.
I hope I was of use to you
Good luck.
Hi Mona and Gargi,
Thanks a lot. If both of you think, submitting this variant to dbSNP would be a complex process, since we only have one patient (via a single method), can any of you suggest me an alternative database (a better one) instead?
Thanks again.
Go to the help page:
http://www.ncbi.nlm.nih.gov/dbvar/content/help/
If this does not help, just write them, at the bottom of the page are contact details. They will help you going through the entire process of submitting your data. Send them the VCF form as far as you were able to do so.
In this way I succeeded to submit a variant to dbvar.
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