Translocations - Sanger/WGS

[Aneta Molenda]

Dear

I would like to check with you nomenclature for translocation detected by WGS.

Could below example (translocation between chromosome 1 and chromosome 6):

Chr6

TTAATATATGGCATTCTAAGTTCTTTAAGAGGAGCCCATTTGAGGTTGGTTTGAGGTAGTTGTTTTGGAGGGTGTACTGGAATTGATGTTTTAGAAGTGAGAACAGAGACAGGTCAAATTCTCTAGGTTTGTTTATCTCTTAGATGAGGACAATGCCTTTCTGTTAGTGGTCTTGTGAG

And

Chr1

aaagcaaaaattttaaaaagcagtgaataacagcagaagttttgatgtatctcagcatctgtccttagcattacaacttgtgagccaattacacctgttttcctctgttaggctgttgacagtca

Be described as:

seq[GRCh38]t(1;6)(p22.2;q25.3)

Chr6

NC_000006.12:g.156927983_qterdelins[NC_000001.11: pter_g.89943081inv;NC_000006.12:g.156928832_156928856]

Chr1

NC_000001.11:g.pter_g.89943284delins[NC_000006.12:g.156934975_qterinv] and NC_000001.11:g.89943331_89943332insGAGCCAATTACACCTGTT

 Thank you

              Aneta Molenda

[Johan den Dunnen]

Dear Aneta,

when I check I get to the following descriptions:

NC_000006.12:g.156927983_qterdelins[156928832_156928856;[NC_000001.11:g.pter_89943081inv]], i.e. the yellow chr6 sequence is 5' of the inverted chr1 sequence.

NC_000001.11:g.[pter_89943284delins[NC_000006.12:g.156934975_qterinv];89943331_89943332insGAGCCAATTACACCTGTT], i.e. the two chr1 variants can be combined in 1 description.

Still, very complicated.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op zaterdag 4 oktober 2025 om 12:39:53 UTC+2 schreef Aneta Molenda: