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HGVS Nomenclature

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Reece Hart, … Permissions Seeking (ELS)10

Jan 12

Re: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3

Dear Reece, Hope you will find this email well. I have attached the updated Table herewith the email

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Re: [hgvs-nomenclature] Follow Up 1: Elsevier Permission Request < Francesc (Paco) Palau: Nelson Pediatric Textbook of Rare Diseases, 1, 9780443115110 > <DEL_Palau_1_chaithanyaa> Table 2.3

Dear Reece, Hope you will find this email well. I have attached the updated Table herewith the email

Jan 12

Joanna Tong, Johan den Dunnen3

Jan 2

HGVS nomenclature query, two variants in cis

Hi Johan, Thank you very much for your reply! really appreciated! Wish you a good start of 2026!

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HGVS nomenclature query, two variants in cis

Hi Johan, Thank you very much for your reply! really appreciated! Wish you a good start of 2026!

Jan 2

Yang Wang, … John Lattier5

Jan 2

Two consecutive substitutions in different codons

Thanks, I had meant c.1455C>G (p.I485M) On Tuesday, December 30, 2025 at 9:03:48 AM UTC-6 Johan

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Two consecutive substitutions in different codons

Thanks, I had meant c.1455C>G (p.I485M) On Tuesday, December 30, 2025 at 9:03:48 AM UTC-6 Johan

Jan 2

Nick, Johan den Dunnen3

12/30/25

HGVS nomenclature Query - insertions at RNA level

Great, thank you so much! BW. Nick On Monday, December 22, 2025 at 9:07:17 AM UTC jtden...@gmail.com

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HGVS nomenclature Query - insertions at RNA level

Great, thank you so much! BW. Nick On Monday, December 22, 2025 at 9:07:17 AM UTC jtden...@gmail.com

12/30/25

Bayley, Jean-Pierre (HG - LUMC), Johan den Dunnen2

12/22/25

right syntax for the beginning and end of a transcript (exon) deletion

Dear Jean-Pierre, the topic you address is discussed on the HGVS nomenclature website under "

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right syntax for the beginning and end of a transcript (exon) deletion

Dear Jean-Pierre, the topic you address is discussed on the HGVS nomenclature website under "

12/22/25

Aneta Molenda, Johan den Dunnen2

12/22/25

Dear Aneta, unfortunately, I will not be able to answer your questions. You should ask the developers

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Dear Aneta, unfortunately, I will not be able to answer your questions. You should ask the developers

12/22/25

Joseph Dube, Johan den Dunnen2

12/21/25

Socrative HGVS nomenclature educational quizzes

Dear Joseph, at the moment, only 1 quiz is available. Problem is the annual subscription fee to use

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Socrative HGVS nomenclature educational quizzes

Dear Joseph, at the moment, only 1 quiz is available. Problem is the annual subscription fee to use

12/21/25

Satshil Rana, Johan den Dunnen2

12/15/25

3' Sliding Merge + Germline Event Clarification

Dear Satshil, to answer your question, some essential information is missing. I have to assume the

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3' Sliding Merge + Germline Event Clarification

Dear Satshil, to answer your question, some essential information is missing. I have to assume the

12/15/25

Hertl Gregor, Johan den Dunnen2

12/15/25

Question Regarding HGVS Nomenclature for Two Close Deletions Detected by NGS

Dear Gregor, in cases like this, where two variants on the same allele both affect the reading frame,

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Question Regarding HGVS Nomenclature for Two Close Deletions Detected by NGS

Dear Gregor, in cases like this, where two variants on the same allele both affect the reading frame,

12/15/25

Sudhisha Dubey, Fokkema, Ivo (HG - LUMC)3

12/12/25

HGVS nomenclature of mutations in cis

Dear Sudhisha, Ah, I see... For a variant to be universally recognizable, the HGVS variant

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HGVS nomenclature of mutations in cis

Dear Sudhisha, Ah, I see... For a variant to be universally recognizable, the HGVS variant

12/12/25

Yahya Yozbatıran, Johan den Dunnen2

12/1/25

HGVS nomenclature of DNA and cDNA level

Dear Yahya, regarding the variant you give, first the description NC_000023.11:g.

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HGVS nomenclature of DNA and cDNA level

Dear Yahya, regarding the variant you give, first the description NC_000023.11:g.

12/1/25

Chiraz Mehemmai, Johan den Dunnen2

11/29/25

Assistance with HGVS Nomenclature

Dear Chiraz, regarding your questions; > - How to represent an unspecified nucleotide change at c.

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Assistance with HGVS Nomenclature

Dear Chiraz, regarding your questions; > - How to represent an unspecified nucleotide change at c.

11/29/25

Анна Степанова, Johan den Dunnen2

11/27/25

a deletion with an inversion

Dear stepanovanna, assuming the sequecing replacing the deleted sequence the correct description

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a deletion with an inversion

Dear stepanovanna, assuming the sequecing replacing the deleted sequence the correct description

11/27/25

MOORE, Benjamin (CAMBRIDGE UNIVERSITY HOSPITALS NHS FOUNDATION TRUST), … Ben Moore3

11/26/25

Invitation to present HGVS at the NHS East Genomics Laboratory Hub

Perfect- thank you, Johan! On Wednesday, November 26, 2025 at 1:02:34 PM UTC Johan den Dunnen wrote:

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Invitation to present HGVS at the NHS East Genomics Laboratory Hub

Perfect- thank you, Johan! On Wednesday, November 26, 2025 at 1:02:34 PM UTC Johan den Dunnen wrote:

11/26/25

Grootscholten, PM (medgen), Johan den Dunnen4

11/24/25

HGVS nomenclature of DNA substitution resulting in an exon deletion

Dear Petra, your question has been answered, please see above (https://groups.google.com/g/hgvs-

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HGVS nomenclature of DNA substitution resulting in an exon deletion

Dear Petra, your question has been answered, please see above (https://groups.google.com/g/hgvs-

11/24/25

Chiara Maragno, … Johan den Dunnen4

11/21/25

Description MLPA deletion

Dear Chiara, > sorry but I forgot to indicate that the reference genome is hg37 NC_000001.10 is

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Description MLPA deletion

Dear Chiara, > sorry but I forgot to indicate that the reference genome is hg37 NC_000001.10 is

11/21/25

Rikke Christensen, … Johan den Dunnen6

11/21/25

Nomenclature recurrent CNV

Dear Laura, when the deletion breakpoint has been sequenced, the format is NC_000023.11:g.

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Nomenclature recurrent CNV

Dear Laura, when the deletion breakpoint has been sequenced, the format is NC_000023.11:g.

11/21/25

Alvaro Reyes, Johan den Dunnen2

11/19/25

HGVS description for intragenic TECRL exons 5–7 tandem duplication (CNV, GRCh37)

Dear Alvaro, HGVS nomenclature uses a 4-position format to describe duplications where the breakpoint

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HGVS description for intragenic TECRL exons 5–7 tandem duplication (CNV, GRCh37)

Dear Alvaro, HGVS nomenclature uses a 4-position format to describe duplications where the breakpoint

11/19/25

Magdaléna Dvořáková, Johan den Dunnen2

11/11/25

Dear Magdaléna, following HGVS nomenclature recommendations you should indeed specify the inserted

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Dear Magdaléna, following HGVS nomenclature recommendations you should indeed specify the inserted

11/11/25

Nicole Kaetterhenry, Johan den Dunnen4

11/11/25

Question regarding extension vs frameshift

Dear Nicole, not sure what you need, I have answered your question on Oct.31. A copy of my reply

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Question regarding extension vs frameshift

Dear Nicole, not sure what you need, I have answered your question on Oct.31. A copy of my reply

11/11/25

MOTTON, NICOLE (BIRMINGHAM WOMEN'S AND CHILDREN'S NHS FOUNDATION TRUST), Johan den Dunnen2

11/7/25

Join the HGVS Nomenclature group and mailing list

Dear Nicole, details regarding joining the HGVS Nomenclature Announcements group and mailing list are

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Join the HGVS Nomenclature group and mailing list

Dear Nicole, details regarding joining the HGVS Nomenclature Announcements group and mailing list are

11/7/25

Mila Sleptsova, Johan den Dunnen9

10/31/25

RNA nomenclature of cryptic exon isertion

Dear Johan, Thank you very very much for your input! Best regards, Mila В 12:44:24 ч. UTC+2на

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RNA nomenclature of cryptic exon isertion

Dear Johan, Thank you very very much for your input! Best regards, Mila В 12:44:24 ч. UTC+2на

10/31/25

Annika Grewal, Johan den Dunnen2

10/22/25

Clarification of closely spaced variants including a frameshift

Dear Annika, in cases like this, to prevent erroneous predictions are made regarding the predicted

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Clarification of closely spaced variants including a frameshift

Dear Annika, in cases like this, to prevent erroneous predictions are made regarding the predicted

10/22/25

Irina RB, Johan den Dunnen2

10/15/25

Nomenclature dup frameshift and extension

Dear Irina, you are right, the predicted consequence of the variant you give (NC_000008.11:g.

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Nomenclature dup frameshift and extension

Dear Irina, you are right, the predicted consequence of the variant you give (NC_000008.11:g.

10/15/25

Shalini S. Nayak, … Johan den Dunnen3

10/7/25

Request for Assistance with Variant Nomenclature – COL1A2 Deletion

Dear Shalini, as Reece indicated, HGVS nomenclature covers the standardized description of variants,

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Request for Assistance with Variant Nomenclature – COL1A2 Deletion

Dear Shalini, as Reece indicated, HGVS nomenclature covers the standardized description of variants,

10/7/25

Aneta Molenda, Johan den Dunnen2

10/7/25

Translocations - Sanger/WGS

Dear Aneta, when I check I get to the following descriptions: NC_000006.12:g.156927983_qterdelins[

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Translocations - Sanger/WGS

Dear Aneta, when I check I get to the following descriptions: NC_000006.12:g.156927983_qterdelins[

10/7/25

David, Fokkema, I.F.A.C. (HG)3

10/6/25

Follow up regarding insertions that encode a translation stop codon

Dear Ivo, Here is the GitHub discussion I just started: https://github.com/HGVSnomenclature/hgvs-

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Follow up regarding insertions that encode a translation stop codon

Dear Ivo, Here is the GitHub discussion I just started: https://github.com/HGVSnomenclature/hgvs-

10/6/25

Valentine Hyland, Johan den Dunnen2

9/11/25

HGVS Nomenclature Checklist

Dear Valentine, a variant description following HGVS nomenclature has a format like: NC_000023.11:g.

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HGVS Nomenclature Checklist

Dear Valentine, a variant description following HGVS nomenclature has a format like: NC_000023.11:g.

9/11/25

Ver...@seznam.cz, … Johan den Dunnen4

8/29/25

Dear Ivo, you are right, I missed that two different reference sequences were used. Since the

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Dear Ivo, you are right, I missed that two different reference sequences were used. Since the

8/29/25

Laura Cobbold, Johan den Dunnen2

8/29/25

Complex inversion nomenclature help

Dear Laura, regarding your question, it seems the format you use to describe the variant is that of

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Complex inversion nomenclature help

Dear Laura, regarding your question, it seems the format you use to describe the variant is that of

8/29/25

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