with or without a comma?

[Julio Rodríguez]

Which one is correct?

CARD11(NM_032415.7):c.536G>A p.(Arg179Gln)
CARD11(NM_032415.7):c.536G>A, p.(Arg179Gln)

Based on this example:
NC_000023.9:g.(123456_234567)_(345678_456789)del, p.(Ser123Arg)

https://hgvs-nomenclature.org/stable/recommendations/general/

it seems that a comma is the correct form, but I am not sure whether there is a formal rule governing this.

thanks!

[Johan den Dunnen]

Dear julio,

following HGVS nomenclature the variant should be reported as NC_000007.14:g.2944360C>T NM_032415.7:c.536G>A p.(Arg179Gln).

HGVS does not use a comma or any other symbol to separate variant descriptions at different levels. The format CARD11(NM_032415.7):c.536G>A does not follow HGVS nomenclature recommendations, the use of gene symbols like "CARD11" in variant descriptions is not allowed. The comma you refer to on page https://hgvs-nomenclature.org/stable/recommendations/general/ is used to separate two different examples on the use of parentheses.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op dinsdag 28 april 2026 om 16:35:37 UTC+2 schreef Julio Rodríguez: