A2ML1-AS1

A2ML1 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:8776219-8830947

Links

ENSG00000256661 ∙ ∙ ∙ HGNC:41022 ∙ ∙ ∙ 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 A2ML1-AS1 gene.

• not provided (118 variants)
• Inborn genetic diseases (43 variants)
• not specified (38 variants)
• Otitis media, susceptibility to (7 variants)
• A2ML1-related condition (2 variants)
• Otitis media (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the A2ML1-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	74	58	15	148
Total	0	1	74	58	15

Variants in A2ML1-AS1

This is a list of pathogenic ClinVar variants found in the A2ML1-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
12-8822219-T-C			Benign (Jun 14, 2018)
12-8822235-C-T			Likely benign (Aug 03, 2018)
12-8822602-C-G		not specified	Likely benign (Nov 09, 2017)
12-8822610-T-A		not specified	Benign (Mar 03, 2017)
12-8822636-T-C		not specified	Likely benign (Jan 16, 2018)
12-8822660-T-A		not specified • Otitis media, susceptibility to	Benign/Likely benign (Jan 20, 2024)
12-8822661-C-T		Otitis media, susceptibility to • Otitis media	Likely pathogenic (Oct 30, 2018)
12-8822664-C-G			Uncertain significance (Nov 10, 2020)
12-8822672-A-G		not specified	Benign/Likely benign (Jul 09, 2023)
12-8822677-T-C		not specified	Uncertain significance (Mar 15, 2024)
12-8822680-T-A		not specified	Uncertain significance (Sep 23, 2021)
12-8822687-A-G			Likely benign (Feb 12, 2020)
12-8822695-C-A		not specified	Uncertain significance (Mar 24, 2024)
12-8822701-C-A			Uncertain significance (Oct 16, 2020)
12-8822701-CAGA-C			Uncertain significance (Jul 10, 2022)
12-8822703-G-A		not specified	Uncertain significance (May 15, 2023)
12-8822706-G-A		not specified	Likely benign (Nov 02, 2022)
12-8822712-C-A			Uncertain significance (Dec 24, 2021)
12-8822712-C-G		not specified	Conflicting classifications of pathogenicity (Jan 22, 2024)
12-8822713-C-T		not specified	Uncertain significance (Dec 16, 2019)
12-8822714-G-A			Uncertain significance (Apr 19, 2023)
12-8822714-G-C			Uncertain significance (Dec 11, 2019)
12-8822722-T-C			Likely benign (Aug 24, 2023)
12-8823009-A-G			Benign (Jun 19, 2018)
12-8823168-T-G			Likely benign (Nov 15, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP