TFAP2A-AS1

TFAP2A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 6:10409340-10457192

Links

ENSG00000229950 ∙ NCBI:100130275 ∙ ∙ HGNC:40579 ∙ ∙ ∙ 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-AS1 gene.

• not provided (38 variants)
• Branchiooculofacial syndrome (11 variants)
• Inborn genetic diseases (3 variants)
• TFAP2A-related condition (2 variants)
• not specified (1 variants)
• Melnick-Fraser syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TFAP2A-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	4	24	10	10	49
Total	1	4	24	10	10

Variants in TFAP2A-AS1

This is a list of pathogenic ClinVar variants found in the TFAP2A-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
6-10409884-G-A			Likely benign (Dec 05, 2022)
6-10409897-T-C			Likely benign (May 21, 2018)
6-10409900-C-A		Branchiooculofacial syndrome	Likely pathogenic (-)
6-10409905-AC-A		Branchiooculofacial syndrome	Pathogenic (Jun 11, 2020)
6-10409913-G-C		Branchiooculofacial syndrome • TFAP2A-related disorder	Uncertain significance (Dec 03, 2023)
6-10409933-G-A		Inborn genetic diseases	Uncertain significance (Feb 17, 2023)
6-10409935-A-T			Uncertain significance (Jul 07, 2023)
6-10409946-T-G			Likely benign (Jun 19, 2023)
6-10409955-T-G			Likely benign (Dec 01, 2022)
6-10409957-A-G		TFAP2A-related disorder	Uncertain significance (May 01, 2023)
6-10409959-C-T			Uncertain significance (Nov 08, 2021)
6-10409961-G-A		Branchiooculofacial syndrome	Benign/Likely benign (Jul 29, 2023)
6-10409973-G-GCCGTGCA		Branchiooculofacial syndrome	Likely pathogenic (Nov 01, 2016)
6-10409978-G-T			Uncertain significance (Sep 08, 2022)
6-10409979-C-A			Likely benign (Dec 18, 2022)
6-10409996-G-T			Likely benign (Apr 16, 2022)
6-10410041-G-A		TFAP2A-related disorder	Benign (Jun 15, 2023)
6-10410045-C-T			Likely benign (Nov 25, 2023)
6-10410061-A-C		TFAP2A-related disorder	Uncertain significance (Mar 26, 2024)
6-10410071-C-CCTGGCT			Uncertain significance (Jan 30, 2020)
6-10410090-G-C			Likely benign (Apr 12, 2023)
6-10410091-G-A			Uncertain significance (Aug 30, 2023)
6-10410092-G-A			Uncertain significance (Jan 09, 2024)
6-10410128-G-C		Inborn genetic diseases	Uncertain significance (May 30, 2023)
6-10410130-G-A		Inborn genetic diseases • Branchiooculofacial syndrome	Uncertain significance (Jan 04, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP