HGVS for F8 Intron 22 inversion (revisited)
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4.6 years ago
bdolin ▴ 90

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/)

genome gene • 1.1k views
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4.6 years ago
bdolin ▴ 90

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.

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