HGVS Nomenclature Checklist

[Valentine Hyland]

I was reviewing my usage of reporting a variant and checked the Checklist

For 7. Describe always on DNA-Level and 

when descriptions on the protein level are given in the text the example is

c.76G>T(p.(Gly26Cys)

Am I correct and there is no space between the T and the ( and there is only a single ) after Cys

I wondered as there are two (s should there be two )s as in c.76G>T(p.(Gly26Cys))

Many thanks for these guidelines

I found the Characters used in the General section very useful and sadly I noted for the first time at the end of these the NOTE: spaces are not permitted in any HGVS description 

[Johan den Dunnen]

Dear Valentine,

a variant description following HGVS nomenclature has a format like:

     NC_000023.11:g.33020156T>A NM_004006.2:c.76G>T p.(Asn26Tyr)

So, the variant is described on genomic (chromosomal) level, on transcript level and the predicted consequences at protein level (the latter two (transcript and protein level) maybe added, but this is not essential). There are no spaces inside a description (so not "NC_000023.11 : g.33020156 T>A") but there is a space between the descriptions at the different levels (g. c. p.).

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op donderdag 11 september 2025 om 09:16:48 UTC+2 schreef hylandv...@gmail.com: