Nonsense vs Stop-gain Variants

Razan Abu Khashabeh

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Mar 31, 2025, 7:56:59 PMMar 31

to HGVS Nomenclature

Hello,

What is the exact difference between nonsense and stop-gain variants, and when each should be described.

Thanks,

Razan

Johan den Dunnen

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Apr 7, 2025, 10:05:46 AMApr 7

to HGVS Nomenclature

Dear Razan,

for a definition of all terms used in HGVS nomenclature, see our Glossary page (https://hgvs-nomenclature.org/stable/background/glossary/). HGVS nomenclature does not use the term "stop-gain variant", so I am not able to give a definition.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op dinsdag 1 april 2025 om 01:56:59 UTC+2 schreef rabukh...@gmail.com:

Scott McMahan

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Apr 7, 2025, 10:32:14 AMApr 7

to HGVS Nomenclature

Using the definition of stop-gain from In Silico Functional Annotation of Genomic Variation - PMC, there doesn’t seem to be a difference between the two.

From: hgvs-nom...@googlegroups.com <hgvs-nom...@googlegroups.com> On Behalf Of Johan den Dunnen
Sent: Monday, April 7, 2025 9:06 AM
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Subject: [hgvs-nomenclature] Re: Nonsense vs Stop-gain Variants

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Johan den Dunnen

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Apr 16, 2025, 4:34:20 AMApr 16

to HGVS Nomenclature

Dear Scott,

thanks for the info. However, as said, HGVS nomenclature does not use the term "stop gain" variant so I can not answer the question.