MCCC1-AS1

MCCC1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 3:183016255-183017808

Links

ENSG00000243368 ∙ ∙ ∙ HGNC:40366 ∙ ∙ ∙ 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 MCCC1-AS1 gene.

• 3-methylcrotonyl-CoA carboxylase 1 deficiency (18 variants)
• not provided (7 variants)
• Inborn genetic diseases (5 variants)
• Methylcrotonyl-CoA carboxylase deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MCCC1-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)						0
splice region						0
non coding		1	9	10	5	25
Total	0	1	9	10	5

Variants in MCCC1-AS1

This is a list of pathogenic ClinVar variants found in the MCCC1-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
3-183017029-A-G			Likely benign (Aug 15, 2018)
3-183017235-C-T			Likely benign (Aug 15, 2018)
3-183017251-T-G		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely benign (Mar 10, 2024)
3-183017256-A-G		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely benign (Jul 19, 2023)
3-183017257-T-C		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely benign (Feb 01, 2022)
3-183017268-C-T		3-methylcrotonyl-CoA carboxylase 1 deficiency	Uncertain significance (Jan 08, 2025)
3-183017269-C-G		Inborn genetic diseases • 3-methylcrotonyl-CoA carboxylase 1 deficiency	Uncertain significance (Nov 09, 2021)
3-183017270-A-C		3-methylcrotonyl-CoA carboxylase 1 deficiency	Uncertain significance (Jan 19, 2022)
3-183017280-C-T		3-methylcrotonyl-CoA carboxylase 1 deficiency	Uncertain significance (Apr 25, 2022)
3-183017281-G-A		3-methylcrotonyl-CoA carboxylase 1 deficiency • Methylcrotonyl-CoA carboxylase deficiency • MCCC1-related disorder	Likely benign (Oct 30, 2024)
3-183017285-A-C		3-methylcrotonyl-CoA carboxylase 1 deficiency	Uncertain significance (Mar 16, 2017)
3-183017291-A-C		Inborn genetic diseases	Uncertain significance (Sep 28, 2022)
3-183017291-A-G		3-methylcrotonyl-CoA carboxylase 1 deficiency	Uncertain significance (Aug 27, 2021)
3-183017300-T-C		3-methylcrotonyl-CoA carboxylase 1 deficiency • Inborn genetic diseases	Uncertain significance (Aug 02, 2023)
3-183017300-TC-T		3-methylcrotonyl-CoA carboxylase 1 deficiency	Pathogenic (Oct 22, 2023)
3-183017305-C-A		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely benign (Apr 22, 2022)
3-183017305-C-T		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely benign (Jun 17, 2024)
3-183017306-G-A		3-methylcrotonyl-CoA carboxylase 1 deficiency • Inborn genetic diseases • MCCC1-related disorder	Conflicting classifications of pathogenicity (Oct 23, 2024)
3-183017312-A-G		Inborn genetic diseases	Uncertain significance (Jul 09, 2021)
3-183017313-CTT-C		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely pathogenic (Oct 17, 2023)
3-183017321-C-T		3-methylcrotonyl-CoA carboxylase 1 deficiency • Inborn genetic diseases	Uncertain significance (Sep 20, 2024)
3-183017326-T-C		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely benign (Jan 13, 2022)
3-183017329-G-A		3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely benign (Jan 01, 2025)
3-183017331-C-A		3-methylcrotonyl-CoA carboxylase 1 deficiency	Uncertain significance (Nov 12, 2023)
3-183017344-AT-A		3-methylcrotonyl-CoA carboxylase 1 deficiency • MCCC1-related disorder	Likely benign (Jul 22, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP