BLOC1S5-TXNDC5

BLOC1S5-TXNDC5 readthrough (NMD candidate)

Basic information

Region (hg38): 6:7881522-8064364

Previous symbols: [ "MUTED-TXNDC5" ]

Links

ENSG00000259040 ∙ NCBI:100526836 ∙ ∙ HGNC:42001 ∙ ∙ ∙ 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 BLOC1S5-TXNDC5 gene.

• Inborn genetic diseases (40 variants)
• not provided (3 variants)
• Hermansky-Pudlak syndrome 11 (2 variants)
• Hermansky-Pudlak syndrome (1 variants)
• BLOC1S5-related condition (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BLOC1S5-TXNDC5 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)		1				1
splice region						0
non coding	1	1	36	6	1	45
Total	1	2	36	6	1

Highest pathogenic variant AF is 0.0000131

Variants in BLOC1S5-TXNDC5

This is a list of pathogenic ClinVar variants found in the BLOC1S5-TXNDC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-7883165-G-T		not specified	Likely benign (Dec 21, 2022)
6-7883179-G-A		not specified	Uncertain significance (Jun 21, 2021)
6-7883190-T-C		not specified	Uncertain significance (Aug 03, 2022)
6-7883235-C-T			Benign (May 14, 2018)
6-7883245-A-C		not specified	Uncertain significance (May 29, 2024)
6-7883250-G-A		not specified	Uncertain significance (Jun 16, 2024)
6-7884388-C-G		not specified	Uncertain significance (Mar 21, 2023)
6-7884403-C-T		not specified	Uncertain significance (Aug 20, 2024)
6-7884430-G-C		not specified	Uncertain significance (Nov 14, 2024)
6-7884465-G-C		not specified	Uncertain significance (Feb 05, 2024)
6-7888710-C-T		not specified	Uncertain significance (Mar 22, 2023)
6-7888713-C-A		not specified	Uncertain significance (Feb 13, 2024)
6-7888716-C-T		not specified	Uncertain significance (Mar 22, 2023)
6-7888722-C-T		not specified	Uncertain significance (May 26, 2024)
6-7888736-G-A		not specified	Uncertain significance (Aug 02, 2023)
6-7888793-G-A		not specified	Likely benign (Aug 02, 2023)
6-7889506-C-A		TXNDC5-related condition	Uncertain significance (Mar 27, 2024)
6-7889564-G-C		not specified	Uncertain significance (Jul 13, 2022)
6-7891640-T-A		not specified	Uncertain significance (Feb 12, 2024)
6-7891641-C-T		not specified	Uncertain significance (Aug 16, 2021)
6-7891709-G-A		not specified	Uncertain significance (Dec 22, 2023)
6-7891734-C-T		not specified	Uncertain significance (May 08, 2024)
6-7895175-T-C		not specified	Uncertain significance (May 11, 2022)
6-7899588-G-C		not specified	Uncertain significance (Apr 23, 2024)
6-7899631-C-T		not specified	Uncertain significance (Jun 22, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.407

Gene ontology

• Cellular component: transport vesicle;BLOC-1 complex