HGVS nomenclature for cis variants

[laura keller]

Dear Sirs and madams,

We observed two variants in cis for the DNMT3A gene (c.2360del and c.2365_2383del) as shown in the picture here below.

could you please help us to find the correct way to report this event ?

should the two variants be separated at the c. level ? 

how to report the consequence on the protein ?

Thank you very much for your help

best wishes,

Laura Keller

[Johan T den Dunnen]

Dear Laura,

unfortunately you do not give the reference sequence used for the
variant descriptions listed. To answer your question I will assume you
used NM_022552.5.

Following HGVS nomenclature the description of the variant is:
NC_000002.12:g.[25239155_25239173del;25239178del]
NM_022552.5:c.[2360del;2365_2383del] p.(Ala787ValfsTer4)

However, since you have two frame shifting variants close to each other
you can also combine the two and use:
NC_000002.12:g.25239155_25239178delinsTGCA
NM_022552.5:c.2360_2383delinsTGCA p.(Ala787ValfsTer4)
This prevents two seperate descriptions for the predicted consequences
at protein level are made which would be both not correct.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)



Op 18-05-2026 om 18:27 schreef laura keller:
> Dear Sirs and madams,
>
> We observed two variants in cis for the /DNMT3A/ gene (c.2360del and

> c.2365_2383del) as shown in the picture here below.
>
> could you please help us to find the correct way to report this event ?
> should the two variants be separated at the c. level ?
> how to report the consequence on the protein ?
>
> Thank you very much for your help
> best wishes,
> Laura Keller
>
>
>

> Doc1.png
>
> --
> You received this message because you are subscribed to the Google
> Groups "HGVS Nomenclature" group.
> To unsubscribe from this group and stop receiving emails from it, send
> an email to hgvs-nomenclat...@googlegroups.com <mailto:hgvs-
> nomenclature...@googlegroups.com>.
> To view this discussion visit https://groups.google.com/d/msgid/hgvs-
> nomenclature/2187b2be-a84e-4b2c-9f9f-d392c2f1c0a5n%40googlegroups.com
> <https://groups.google.com/d/msgid/hgvs-nomenclature/2187b2be-
> a84e-4b2c-9f9f-d392c2f1c0a5n%40googlegroups.com?
> utm_medium=email&utm_source=footer>.

[laura keller]

Dear Johan,

Sincere apologies for omitting the NM_.

and many many thanks for your help on this case.

Best wishes,

Laura