MYCBP2-AS1

MYCBP2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 13:77026767-77129717

Links

ENSG00000236051 ∙ ∙ ∙ HGNC:41023 ∙ ∙ ∙ 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 MYCBP2-AS1 gene.

• Inborn genetic diseases (56 variants)
• not provided (41 variants)
• MYCBP2-related condition (2 variants)
• Malignant tumor of prostate (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYCBP2-AS1 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			82	12	5	99
Total	0	0	82	13	5

Variants in MYCBP2-AS1

This is a list of pathogenic ClinVar variants found in the MYCBP2-AS1 region.

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

Position	Type	Phenotype	Significance	ClinVar
13-77045402-C-T		MYCBP2-related disorder	Benign (Apr 25, 2019)
13-77051011-G-C		Inborn genetic diseases	Uncertain significance (Sep 23, 2023)
13-77051029-A-G			Uncertain significance (Jul 22, 2024)
13-77051078-T-C			Uncertain significance (-)
13-77051089-CAG-C			Uncertain significance (Nov 25, 2022)
13-77051811-C-T		MYCBP2-related disorder	Benign (Dec 31, 2019)
13-77051855-T-C		Inborn genetic diseases	Uncertain significance (Jun 18, 2024)
13-77051876-G-A		Inborn genetic diseases	Uncertain significance (Jul 13, 2021)
13-77051896-C-T		Inborn genetic diseases	Uncertain significance (Feb 22, 2023)
13-77051897-G-A			Pathogenic (Feb 02, 2023)
13-77055554-A-T		MYCBP2-related disorder	Likely benign (Jul 16, 2018)
13-77055578-C-T			Uncertain significance (Apr 26, 2023)
13-77055608-C-A			Uncertain significance (Jan 04, 2024)
13-77055701-T-C		Inborn genetic diseases	Uncertain significance (Nov 24, 2024)
13-77055704-C-A		Inborn genetic diseases	Uncertain significance (Jul 25, 2023)
13-77055704-C-T		Inborn genetic diseases	Uncertain significance (Oct 29, 2024)
13-77057054-G-A			Uncertain significance (May 23, 2022)
13-77057063-A-C			Uncertain significance (Oct 09, 2024)
13-77058237-G-A		Inborn genetic diseases	Uncertain significance (Sep 04, 2024)
13-77058300-C-T		Inborn genetic diseases	Likely benign (Jan 26, 2023)
13-77058313-C-T		Inborn genetic diseases	Uncertain significance (Jun 18, 2024)
13-77058341-G-A			Likely benign (Sep 01, 2022)
13-77058372-G-T		Inborn genetic diseases	Uncertain significance (Jun 16, 2024)
13-77059594-G-A		Inborn genetic diseases	Uncertain significance (Oct 21, 2024)
13-77059603-C-T			Uncertain significance (Apr 26, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP