HGVS cdna representation

[Richard White]

Dear HGVS team,

I'm looking for confirmation of the cDNA representation of the following variant.

NC_000007.14:g128675621C>CTTC

This variant lies in an intron of the Ensembl transcript ENST00000684742.1

The CDS for this transcript is 213 bp including the stop codon and the stop codon is split across the two surrounding exons. The first 2 bases of the stop codon are in the previous exon and the final base is the first base of the following exon. The variant is closer to the downstream exon, so my understanding is that the cDNA representation for the variant in this transcript should be:

ENST00000684742.1:c.213-29_213-27dup

Could you confirm if this is correct?

Thanks in advance for your help.

Richard White

[Johan den Dunnen]

Dear Richard,

please note the description you give (NC_000007.14:g128675621C>CTTC) does not follow HGVS nomenclature. I therefor need to guess what you mean, I assume NC_000007.14:g.128675621_128675622insTTC which following current HGVS nomenclature is described correctly as NC_000007.14:g.128675619_128675621dup. Indeed, using the coding DNA reference sequence you mention this is described as ENST00000477515.3:c.154-29_154-27dup.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op donderdag 25 juni 2026 om 14:00:35 UTC+2 schreef rwh...@ebi.ac.uk: