nomenclature at RNA and protein level

[Claudia Pinato]

Dear HGVS support,

I have a question about the description of variants at RNA and protein level in case of RNA studies.

I found the BRCA2 c.8487+1G>A variant in which functional RNA studies demonstrated in frame exon skipping. 

Is the correct nomenclature NC_000013.11(NM_000059.4):c.8487+1G>A r.8332_8487del p.Ile2778_Gln2829del, or should parentheses be used at protein level: p.(Ile2778_Gln2829del)?

Thanks for your help

Claudia

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Dr. Claudia Pinato, PhD
Biologist, Specialist in Medical Genetics
Veneto Institute of Oncology IRCCS

[Johan den Dunnen]

Dear Claudia,

following HGVS nomenclature, the correct description of the variant is NC_000013.11:g.32370558G>A NM_000059.4:c.8487+1G>A r.8332_8487del p.Ile2778_Gln2829del.

Please note that HGVS nomenclature demands that all variants are described on genomic level *therefor the NC_ description), descriptions at other level may be added. Furthermore, when RNA has been analysed the consequences at protein level can be described without parentheses.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op vrijdag 27 februari 2026 om 09:52:54 UTC+1 schreef claudia...@iov.veneto.it: