DUS4L-BCAP29

DUS4L-BCAP29 readthrough

Basic information

Region (hg38): 7:107563970-107623317

Links

ENSG00000288558 ∙ NCBI:115253422 ∙ ∙ HGNC:54422 ∙ ∙ ∙ 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 DUS4L-BCAP29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DUS4L-BCAP29 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			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding		2	15	9	1	27
Total	0	2	25	9	1

Variants in DUS4L-BCAP29

This is a list of pathogenic ClinVar variants found in the DUS4L-BCAP29 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-107563972-C-T		COG5-congenital disorder of glycosylation	Likely benign (Aug 10, 2022)
7-107563971-G-GGGCCC		COG5-congenital disorder of glycosylation	Likely pathogenic (Apr 27, 2019)
7-107563973-C-T		COG5-congenital disorder of glycosylation	Uncertain significance (Jul 03, 2022)
7-107563975-G-C		COG5-related disorder	Likely benign (Mar 23, 2020)
7-107563978-C-T		COG5-congenital disorder of glycosylation	Likely benign (Feb 22, 2023)
7-107563979-A-C			Likely benign (-)
7-107563979-ACC-A		COG5-congenital disorder of glycosylation	Pathogenic/Likely pathogenic (Jul 07, 2023)
7-107563986-C-T		COG5-congenital disorder of glycosylation	Uncertain significance (Dec 11, 2023)
7-107563988-A-C		COG5-congenital disorder of glycosylation	Uncertain significance (Sep 22, 2022)
7-107563988-A-T		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)
7-107563995-C-T		COG5-congenital disorder of glycosylation • not specified • COG5-related disorder	Benign (Mar 11, 2019)
7-107563996-A-G		COG5-related disorder	Likely benign (Dec 06, 2019)
7-107563997-G-A		not specified • COG5-congenital disorder of glycosylation • COG5-related disorder	Conflicting classifications of pathogenicity (Dec 13, 2019)
7-107564019-T-A		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)
7-107564023-C-A		not specified	Likely benign (Aug 18, 2017)
7-107564039-G-T		not specified	Likely benign (Feb 01, 2017)
7-107564045-C-G		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)
7-107564045-C-T		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)
7-107564134-G-A		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 22, 2018)
7-107564158-C-A		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)
7-107564268-CAG-C		Congenital disorder of glycosylation	Uncertain significance (Jun 14, 2016)
7-107564280-G-A		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 13, 2018)
7-107564281-G-C		COG5-congenital disorder of glycosylation	Uncertain significance (Jan 12, 2018)
7-107564287-G-C		COG5-congenital disorder of glycosylation	Likely benign (Jan 13, 2018)
7-107564340-C-T		COG5-congenital disorder of glycosylation	Likely benign (Jan 12, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP