In-frame insertion including stop codon not following updated HGVS
Created by: gaberudy
The following variant: NM_001123385.1:c.2574_2575insGTTCCTTAGGAG introduces a stop codon and according to the updated HGVS spec I believe should be represented as p.E858_L859insValProTer)
Currently: https://mutalyzer.nl/name-checker?description=NM_001123385.1%3Ac.2574_2575insGTTCCTTAGGAG
It produces NM_001123385.1(BCOR_i001):p.(Leu859_Trp1755delinsValPro)
The updated HGVS page describes this case with an example: https://varnomen.hgvs.org/recommendations/protein/variant/insertion/
insertions containing a translation stop codon in the inserted sequence are described as an insertion, not as a deletion-insertion removing the entire C-terminal amino acid sequence
p.(Met3_His4insGlyTer) the predicted consequence at the protein level of an insertion at the DNA level (c.9_10insGGGTAG) is the insertion of GlyTer (alternatively Gly*) NOTE: this is not described as p.(Met3_Ile3418delinsGly), a deletion-insertion replacing the entire C-terminal protein coding sequence downstream of Met3 with a Gly)
This is definitely an edge case, but I do think the new HGVS recommendation