Join the HGVS Nomenclature group and mailing list

[MOTTON, NICOLE (BIRMINGHAM WOMEN'S AND CHILDREN'S NHS FOUNDATION TRUST)]

Hi,

Could I please join the HGVS nomenclature group and mailing list please? I could not work out how to do this from the HGVS nomenclature website.

Also, I have a query regarding the naming of an indel variant please. 

Gene ADGRL1 

NM_001008701.3

At the nucleotide level the variant is: 

c.2365_2377delinsTCCAGGTGA

We are having debate on the protein nomenclature, however. Is it p.(Val789Serfs*3) or p.(Val789_Glu793delinsSerArgTer)?

Thank you,

Nicole

Nicole Motton Hill 

Clinical Scientist

West Midlands Genomics Laboratory

Birmingham Women's and Children’s NHS Foundation Trust

Mindelsohn Way

Edgbaston

Birmingham

B15 2TG

 

Tele No: 0121 335 8036 Ext. 5737

Email: nicole...@nhs.net

 

For details on Genomic testing in England including the National Testing Directory please visit:

https://www.england.nhs.uk/publication/national-genomic-test-directories/

 

Visit our website to find out more about our new Trust: bwc.nhs.uk

 

 

Please note I do not work Mondays (my working hours are 9:30-14:30 on Tuesday-Thursday and 8:30-17:00 on Friday) – for any urgent enquiries please contact the lab directly.

 

 

************************************************************************************** ******************************

This message may contain confidential information. If you are not the intended recipient please:
i) inform the sender that you have received the message in error before deleting it; and
ii) do not disclose, copy or distribute information in this e-mail or take any action in relation to its content (to do so is strictly prohibited and may be unlawful).
Thank you for your co-operation.

NHS.net Connect is the secure email, collaboration and directory service available for all NHS staff in England. NHS.net Connect is approved for exchanging patient data and other sensitive information with NHS.net Connect and other accredited email services.

For more information and to find out how you can switch visit Joining NHS.net Connect – NHS.net Connect Support

[Johan den Dunnen]

Dear Nicole,

details regarding joining the HGVS Nomenclature Announcements group and mailing list are on our home page, linking to https://groups.google.com/g/hgvs-nomenclature-announcements/.

The predicted consequence on protein level of variant NC_000019.10:g.14158340_14158352delinsTCACCTGGA NM_001008701.3:c.2365_2377delinsTCCAGGTGA is p.(Val789SerfsTer3), confirmed by both Mutlayzer and VariantValidator.

Best regards,

Johan den Dunnen
HUGO HGVS Variant Nomenclature Committee (HVNC)

Op vrijdag 7 november 2025 om 19:31:34 UTC+1 schreef MOTTON, NICOLE (BIRMINGHAM WOMEN'S AND CHILDREN'S NHS FOUNDATION TRUST):