THSD8

thrombospondin type 1 domain containing 8

Basic information

Region (hg38): 19:12802031-12813581

Links

ENSG00000284491 ∙ ∙ ∙ HGNC:53785 ∙ Uniprot:A0A1W2PP97 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the THSD8 gene.

• Aicardi-Goutieres syndrome 4 (355 variants)
• not provided (39 variants)
• Inborn genetic diseases (15 variants)
• not specified (9 variants)
• Aicardi Goutieres syndrome (6 variants)
• RNASEH2A-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the THSD8 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)		5	22	9	2	38
splice region						0
non coding	6	9	173	127	20	335
Total	6	14	195	136	22

Highest pathogenic variant AF is 0.0000526

Variants in THSD8

This is a list of pathogenic ClinVar variants found in the THSD8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-12806286-G-C			Benign (Mar 23, 2021)
19-12806605-G-A		Aicardi-Goutieres syndrome 4	Uncertain significance (Jan 12, 2018)
19-12806625-C-T		Aicardi Goutieres syndrome • Aicardi-Goutieres syndrome 4	Uncertain significance (Jan 13, 2018)
19-12806649-A-G		Aicardi Goutieres syndrome	Uncertain significance (Jun 14, 2016)
19-12806658-T-C		Aicardi-Goutieres syndrome 4 • not specified	Benign (Jan 13, 2018)
19-12806674-A-G		Aicardi-Goutieres syndrome 4	Uncertain significance (Jun 15, 2022)
19-12806677-G-T		Aicardi-Goutieres syndrome 4	Uncertain significance (Aug 02, 2022)
19-12806678-A-G		Aicardi-Goutieres syndrome 4	Uncertain significance (Aug 24, 2021)
19-12806681-T-C		Aicardi-Goutieres syndrome 4	Uncertain significance (Aug 02, 2022)
19-12806686-G-T		Aicardi-Goutieres syndrome 4	Pathogenic (Apr 17, 2023)
19-12806688-G-A		Aicardi-Goutieres syndrome 4	Likely benign (Jun 15, 2022)
19-12806689-C-T		Aicardi-Goutieres syndrome 4	Likely benign (Jul 30, 2020)
19-12806691-G-A		Aicardi-Goutieres syndrome 4	Likely benign (Jul 16, 2023)
19-12806694-G-A		Aicardi-Goutieres syndrome 4	Likely benign (Aug 10, 2022)
19-12806698-G-A		Aicardi-Goutieres syndrome 4	Uncertain significance (Aug 23, 2022)
19-12806702-A-G		Aicardi-Goutieres syndrome 4	Uncertain significance (Aug 31, 2021)
19-12806705-C-T		Aicardi-Goutieres syndrome 4	Uncertain significance (Mar 19, 2022)
19-12806706-A-G		not specified • Aicardi-Goutieres syndrome 4	Benign (Feb 01, 2024)
19-12806707-G-A		Aicardi-Goutieres syndrome 4	Uncertain significance (Jun 20, 2022)
19-12806709-C-T		Aicardi-Goutieres syndrome 4	Conflicting classifications of pathogenicity (Jan 22, 2024)
19-12806711-G-T		Aicardi-Goutieres syndrome 4	Uncertain significance (Mar 23, 2022)
19-12806717-G-A		Aicardi-Goutieres syndrome 4	Uncertain significance (Jul 31, 2019)
19-12806718-C-A		Aicardi-Goutieres syndrome 4	Likely benign (May 19, 2023)
19-12806719-C-T		Aicardi-Goutieres syndrome 4 • RNASEH2A-related disorder	Likely benign (Jan 25, 2024)
19-12806727-G-T		Aicardi-Goutieres syndrome 4	Likely benign (Jan 16, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP