C1QTNF3-AMACR

C1QTNF3-AMACR readthrough (NMD candidate)

Basic information

Region (hg38): 5:33987173-34124528

Links

ENSG00000273294 ∙ NCBI:100534612 ∙ ∙ HGNC:49198 ∙ ∙ ∙ 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 C1QTNF3-AMACR gene.

• Alpha-methylacyl-CoA racemase deficiency (310 variants)
• not provided (75 variants)
• Inborn genetic diseases (21 variants)
• not specified (19 variants)
• Congenital bile acid synthesis defect 4 (8 variants)
• Oculocutaneous albinism (8 variants)
• Congenital bile acid synthesis defect 4;Alpha-methylacyl-CoA racemase deficiency (5 variants)
• AMACR-related condition (4 variants)
• Spastic ataxia (1 variants)
• Seizure (1 variants)
• Mitochondrial complex I deficiency (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the C1QTNF3-AMACR 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)			12	7		19
splice region						0
non coding	1	1	208	102	22	334
Total	1	1	220	109	22

Variants in C1QTNF3-AMACR

This is a list of pathogenic ClinVar variants found in the C1QTNF3-AMACR region.

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

Position	Type	Phenotype	Significance	ClinVar
5-33987218-G-A		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 12, 2018)
5-33987231-G-A		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33987240-C-T		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33987241-G-A		Alpha-methylacyl-CoA racemase deficiency	Benign (Jan 12, 2018)
5-33987289-C-A		Alpha-methylacyl-CoA racemase deficiency	Likely benign (Jun 14, 2016)
5-33987329-T-G		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33987366-C-A		Alpha-methylacyl-CoA racemase deficiency	Benign (Jan 13, 2018)
5-33987450-A-G		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33987471-A-G		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jun 14, 2016)
5-33987533-C-T		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 12, 2018)
5-33987726-A-G		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33987727-T-C		Alpha-methylacyl-CoA racemase deficiency	Likely benign (Jan 13, 2018)
5-33987740-C-T		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33987890-T-C		Alpha-methylacyl-CoA racemase deficiency	Likely benign (Jan 12, 2018)
5-33987912-C-T		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 12, 2018)
5-33987915-C-T		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33987949-T-C		Oculocutaneous albinism • Alpha-methylacyl-CoA racemase deficiency	Likely benign (Jun 14, 2016)
5-33987983-C-A		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 13, 2018)
5-33988023-G-A		Alpha-methylacyl-CoA racemase deficiency • Oculocutaneous albinism	Benign/Likely benign (Mar 24, 2019)
5-33988061-C-G		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 12, 2018)
5-33988111-G-A		Alpha-methylacyl-CoA racemase deficiency • Oculocutaneous albinism	Likely benign (Aug 10, 2019)
5-33988117-C-T		Alpha-methylacyl-CoA racemase deficiency	Likely benign (Jun 14, 2016)
5-33988130-G-A		Oculocutaneous albinism • Alpha-methylacyl-CoA racemase deficiency	Benign/Likely benign (Apr 20, 2019)
5-33988288-G-T		Alpha-methylacyl-CoA racemase deficiency	Uncertain significance (Jan 12, 2018)
5-33988319-T-C		Inborn genetic diseases	Uncertain significance (Feb 09, 2022)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Gene ontology

• Cellular component: extracellular region;collagen trimer