Question: HGVS for F8 Intron 22 inversion (revisited)
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gravatar for bdolin
2.7 years ago by
bdolin90
Elimu Informatics
bdolin90 wrote:

Greetings,

For this picture of a F8 Intron 22 Inversion Mutation (where we only know that the breakpoints are somewhere in homologous F8A1 genes (Graphic: F8 Intron 22 Inversion Mutation), I've constructed an HGVS, but it doesn't validate in either Mutalyzer or in ClinGen's Allele Registry.

Here is the HGVS I constructed corresponding to the image: NC_000023.10:g.(154114635_154116336)_(154686575_154688276)inv

Can anyone suggest if my HGVS is wrong?

Thanks, Bob

(a prior related thread: https://www.biostars.org/p/253729/)

gene genome • 765 views
ADD COMMENTlink modified 2.7 years ago • written 2.7 years ago by bdolin90

Here is the link to the image: https://drive.google.com/open?id=0B8F9z-ZHlX-aWDJFQ1ZkVV9YMW8

ADD REPLYlink written 2.7 years ago by bdolin90
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gravatar for bdolin
2.7 years ago by
bdolin90
Elimu Informatics
bdolin90 wrote:

A response I received from the HGVS/HVP/HUGO sequence variant description working group:


*acc. to HGVS recommendations the description is correct. It states that there is an inversion on the X chromosome with, based on the NC_000023.10 reference sequence, the breakpoints between nucleotides g.154114635 and g.154116336 on one side and g.154686575 and g.154688276 on the other side. When that is what you found the description is correct.

Correct that Mutalyzer currently does not accept this description, work in progress for the Mutalyzer team. The same is probably true for the ClinGen Allele Registry but I do not know this resource very well.

ADD COMMENTlink written 2.7 years ago by bdolin90
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