Inherited non-medullary thyroid cancer
Gene: SEC23B

SEC23B (Sec23 homolog B, coat complex II component)
EnsemblGeneIds (GRCh38): ENSG00000101310
EnsemblGeneIds (GRCh37): ENSG00000101310
OMIM: 610512, Gene2Phenotype
SEC23B is in 13 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is limited evidence linking this gene with Cowden syndrome (monoallelic variants). Only one family has been reported to date (PMID:26522472). The other variant identified in 2 unrelated women discussed in previous reviews, has since been reclassified as a VUS.

This gene:disease association is provisional in OMIM, 'limited' disease confidence category in G2P and is not listed in ClinGen (whereas CDAII is).

On this basis, downgrading the rating of this gene from Green to Red.
Created: 7 Nov 2023, 12:37 p.m. | Last Modified: 7 Nov 2023, 12:37 p.m.

Panel Version: 1.7

Created: 7 Nov 2023, 12:37 p.m.
Last Modified: 7 Nov 2023, 12:37 p.m.
Panel version: 1.7

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. PMID 26522472 reports 2 variants: p.V594G in 5 members of a large family and functional analysis in transfected HEK293T cells showed aberrant aggregation of SEC23B and significantly increased cell migration and upregulation of epithelial-to-mesenchymal transition genes with the V594G mutant compared to wildtype, suggesting a cancer-relevant effect. And p.V164L in two unrelated women.
Created: 7 Aug 2017, 1:20 p.m.

Created: 7 Aug 2017, 1:20 p.m.

Panel version: 0.54

Emma Woodward (Manchester Centre for Genomic Medicine)

Red List (low evidence)

clinical utility not yet clear. one publication demonstrating germline involvement in apparently sporadic NMTC.
Created: 13 Jun 2017, 3:02 p.m.

Created: 13 Jun 2017, 3:02 p.m.

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen

Phenotypes

Cowden syndrome 7, OMIM:616858

OMIM

610512

Clinvar variants

Variants in SEC23B

Penetrance

Complete

Publications

26522472

Panels with this gene

History Filter Activity

7 Nov 2023, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: sec23b has been classified as Red List (Low Evidence).

7 Nov 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SEC23B were changed from Cowden syndrome 7 616858 to Cowden syndrome 7, OMIM:616858

7 Aug 2017, Gel status: 4