HGVS nomenclature verification – DLL1 variants

[Simona Mellone]

Dear all,
I am writing to request verification of HGVS nomenclature for two
adjacent variants identified in heterozygosity in the DLL1 gene, known
to be in cis: a single-nucleotide deletion (NM_005618.4:c.845delG) and
a missense variant (NM_005618.4:c.844G>T).
I would be grateful if you could confirm whether the following
combined HGVS description is correct:
NM_005618.4:c.844_845delinsT and, consequently, the corresponding
protein annotation:
NM_005618.4:p.(Gly282Serfs*8)
Thank you in advance for your assistance. I look forward to your kind reply.
Yours sincerely,
Simona Mellone


--
Dott.ssa Simona Mellone
Dirigente Biologo

SCDU Biochimica Clinica
Settore di Genetica
AOU Maggiore della Carità - Novara
Tel.:0321/373.4087/4088
email: simona....@med.uniupo.it
simona....@maggioreosp.novara.it

[Johan den Dunnen]

Dear Simona,

indeed, following HGVS nomenclature the variant should be described as NC_000006.12:g.170285586_170285587delinsA NM_005618.4:c.844_845delinsT. The predicted consequences at protein level can be described as p.(Gly282SerfsTer8).

Note HGVS nomenclature recommends reporting variants always on genomic level (NC_000006.12:g.170285586_170285587delinsA), descriptions at other level may be added. In addition HGVS nomenclature recommends the use of three-letter amino acid code, so "Ter", although the "*" may also be used.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op woensdag 29 april 2026 om 12:56:32 UTC+2 schreef Simona Mellone: