TFAP2A-AS2

TFAP2A antisense RNA 2, the group of Antisense RNAs

Basic information

Region (hg38): 6:10404456-10407928

Links

ENSG00000285278 ∙ ∙ OMIM:617136 ∙ HGNC:52289 ∙ ∙ ∙ 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 TFAP2A-AS2 gene.

• Branchiooculofacial syndrome (6 variants)
• not provided (5 variants)
• Inborn genetic diseases (2 variants)
• Chromatinopathy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TFAP2A-AS2 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	11	14	28	19	2	74
Total	11	14	28	19	2

Variants in TFAP2A-AS2

This is a list of pathogenic ClinVar variants found in the TFAP2A-AS2 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-10404471-C-CGCGGG			Benign (Dec 14, 2018)
6-10404490-G-T			Likely benign (May 12, 2023)
6-10404490-G-GGCCGT			Likely benign (Jul 16, 2023)
6-10404492-C-A			Likely benign (Oct 02, 2021)
6-10404496-G-A		Branchiooculofacial syndrome	Uncertain significance (May 18, 2024)
6-10404497-C-T			Likely benign (Dec 03, 2024)
6-10404503-C-T			Uncertain significance (Oct 03, 2022)
6-10404509-T-A		Inborn genetic diseases • Chromatinopathy	Pathogenic (Jun 01, 2017)
6-10404509-T-C		Branchiooculofacial syndrome	Pathogenic/Likely pathogenic (Aug 16, 2023)
6-10404510-C-T			Conflicting classifications of pathogenicity (Jan 18, 2024)
6-10404511-C-T		Inborn genetic diseases • Branchiooculofacial syndrome	Pathogenic/Likely pathogenic (Oct 09, 2024)
6-10404512-G-A		Branchiooculofacial syndrome • Inborn genetic diseases	Pathogenic (Jan 24, 2024)
6-10404512-G-C		Branchiooculofacial syndrome	Pathogenic (Nov 01, 2016)
6-10404520-C-T		Branchiooculofacial syndrome	Likely pathogenic (Oct 23, 2019)
6-10404523-C-T		Branchiooculofacial syndrome	Likely pathogenic (Nov 01, 2016)
6-10404524-C-A		Branchiooculofacial syndrome	Uncertain significance (Apr 17, 2020)
6-10404526-A-C		not specified	Uncertain significance (Nov 21, 2023)
6-10404526-A-G		Branchiooculofacial syndrome	Pathogenic (Jan 17, 2020)
6-10404529-A-G			Uncertain significance (Jan 25, 2024)
6-10404531-C-T		Branchiooculofacial syndrome	Likely benign (Dec 22, 2021)
6-10404535-G-T			Likely pathogenic (Aug 31, 2022)
6-10404536-C-T		Branchiooculofacial syndrome	Uncertain significance (-)
6-10404539-T-A			Uncertain significance (Jun 25, 2024)
6-10404539-T-C		Branchiooculofacial syndrome	Likely pathogenic (Aug 01, 2021)
6-10404540-G-A			Likely benign (Jan 02, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP