Groups

HGVS Nomenclature

Contact owners and managers

1–30 of 132

0 selected

Reece Hart, … Permissions Seeking13

Jan 16

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 Dr. Wagner, Many thanks for granting us permissions. Have a great day! Aan Joshy Permission

unread,

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 Dr. Wagner, Many thanks for granting us permissions. Have a great day! Aan Joshy Permission

Jan 16

Joseph Dube, … Joseph Brenton Dube3

Jan 14

Socrative HGVS nomenclature educational quizzes

Thanks so much Johan - would you have any way to share the previous quiz questions/answers? I thought

unread,

Socrative HGVS nomenclature educational quizzes

Thanks so much Johan - would you have any way to share the previous quiz questions/answers? I thought

Jan 14

Jan 14

HGVS listing of multiple RNA and protein consequences

Dear HGVS group, Based on mRNA analysis, we have shown that a single DNA variant results in three

unread,

HGVS listing of multiple RNA and protein consequences

Dear HGVS group, Based on mRNA analysis, we have shown that a single DNA variant results in three

Jan 14

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!

unread,

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

unread,

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

unread,

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 "

unread,

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

unread,

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

12/22/25

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

unread,

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,

unread,

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

unread,

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.

unread,

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.

unread,

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

unread,

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:

unread,

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-

unread,

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

unread,

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.

unread,

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

unread,

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

unread,

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

unread,

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

unread,

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

unread,

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

unread,

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.

unread,

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,

unread,

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[

unread,

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-

unread,

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.

unread,

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

unread,

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

8/29/25

Search

Clear search

Close search

Google apps

Main menu