Big insertion
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Magdaléna Dvořáková
Nov 11, 2025, 4:13:53 AMNov 11
to hgvs-nom...@googlegroups.com
Dear,
I need advice on the correct annotation of a large insertion. We found an insertion of 81 nt in the USH2A gene after nucleotide 14951. Is it necessary to list all 81 nt letter by letter or is there a shorten version, e.g. NM_206933.4:c.14951_14952ins81?
Thank you very much for the advice
Magdaléna
Johan den Dunnen
Nov 11, 2025, 9:12:19 AMNov 11
to HGVS Nomenclature
Dear Magdaléna,
following HGVS nomenclature recommendations you should indeed specify the inserted sequence. Reporting NM_206933.4:c.14951_14952insN[81], so not specifying the 81 nucleotides is not very useful, e.g. one can not predict the consequences on protein level of the variant.
In general, the inserted sequence comes from "somewhere", so specifying it based on the reference sequence of the origin is one option. For an example, see Notes on https://hgvs-nomenclature.org/stable/recommendations/DNA/insertion/. Another option mentioned on this page is to submit the inserted sequence with some flanking nucleotides to GenBank and use the accession.verion number obtained as source of the inserted sequence.
Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)
Op dinsdag 11 november 2025 om 10:13:53 UTC+1 schreef dvorakova...@gmail.com:
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