TACR3-AS1

TACR3 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 4:103548745-103624534

Links

ENSG00000251577 ∙ ∙ ∙ HGNC:55593 ∙ ∙ ∙ 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 TACR3-AS1 gene.

• not provided (29 variants)
• Hypogonadotropic hypogonadism 11 with or without anosmia (23 variants)
• not specified (6 variants)
• Inborn genetic diseases (3 variants)
• Isolated GnRH Deficiency (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TACR3-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		24	17	4	46
Total	1	0	24	17	4

Variants in TACR3-AS1

This is a list of pathogenic ClinVar variants found in the TACR3-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
4-103589412-A-G			Likely benign (May 10, 2019)
4-103589480-C-G		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 12, 2018)
4-103589504-CAT-C		Isolated GnRH Deficiency	Uncertain significance (Jun 14, 2016)
4-103589539-C-T		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-103589544-C-T		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 12, 2018)
4-103589557-T-C		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 12, 2018)
4-103589588-A-C		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 12, 2018)
4-103589595-A-G		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 12, 2018)
4-103589609-G-A		Hypogonadotropic hypogonadism 11 with or without anosmia	Benign (Jun 26, 2018)
4-103589687-A-G		Inborn genetic diseases	Likely benign (Apr 07, 2022)
4-103589707-T-C			Uncertain significance (May 06, 2022)
4-103589735-C-A		not specified • Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Nov 09, 2023)
4-103589735-C-T		Hypogonadotropic hypogonadism 11 with or without anosmia • TACR3-related disorder	Benign/Likely benign (Dec 27, 2023)
4-103589736-G-A		not specified • Hypogonadotropic hypogonadism 11 with or without anosmia	Benign/Likely benign (May 23, 2023)
4-103589759-G-A		Hypogonadotropic hypogonadism 11 with or without anosmia	Conflicting classifications of pathogenicity (Aug 31, 2023)
4-103589769-A-G		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 12, 2018)
4-103589790-C-T		Hypogonadotropic hypogonadism 11 with or without anosmia	Conflicting classifications of pathogenicity (Apr 13, 2018)
4-103589791-G-A		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Oct 31, 2018)
4-103589791-G-T		Inborn genetic diseases	Uncertain significance (May 07, 2024)
4-103589834-T-A		Hypogonadotropic hypogonadism 11 with or without anosmia • not specified • TACR3-related disorder	Conflicting classifications of pathogenicity (Oct 21, 2024)
4-103589846-C-T		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Oct 11, 2021)
4-103589850-T-A		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-103589855-T-C		Hypogonadotropic hypogonadism 11 with or without anosmia	Conflicting classifications of pathogenicity (Aug 08, 2018)
4-103589874-G-A		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 13, 2018)
4-103589892-C-T		Hypogonadotropic hypogonadism 11 with or without anosmia	Uncertain significance (Jan 13, 2018)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP