FAM222A-AS1

FAM222A antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 12:109734166-109773508

Links

ENSG00000255650 ∙ NCBI:84983 ∙ ∙ HGNC:28223 ∙ ∙ ∙ 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 FAM222A-AS1 gene.

• Inborn genetic diseases (33 variants)
• not provided (6 variants)
• Abnormal brain morphology (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM222A-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	33	2	4	40
Total	0	1	33	2	4

Highest pathogenic variant AF is 0.00000657

Variants in FAM222A-AS1

This is a list of pathogenic ClinVar variants found in the FAM222A-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
12-109744189-C-T		not specified	Uncertain significance (Sep 23, 2023)
12-109744199-G-A		not specified	Uncertain significance (Dec 15, 2022)
12-109744202-C-G		not specified	Uncertain significance (Dec 06, 2024)
12-109744214-T-A		not specified	Uncertain significance (Aug 20, 2024)
12-109768012-G-A		not specified	Uncertain significance (Sep 06, 2022)
12-109768017-G-T		not specified	Uncertain significance (Sep 20, 2023)
12-109768032-A-G		not specified	Uncertain significance (Feb 14, 2023)
12-109768075-A-T		not specified	Uncertain significance (Jun 22, 2021)
12-109768131-C-T		not specified	Uncertain significance (Aug 15, 2023)
12-109768158-C-T		not specified	Uncertain significance (Dec 05, 2022)
12-109768167-A-G		not specified	Uncertain significance (Jul 02, 2024)
12-109768191-C-A		not specified	Uncertain significance (Oct 14, 2021)
12-109768212-C-T		not specified	Uncertain significance (Mar 21, 2023)
12-109768213-A-T		Abnormal brain morphology	Likely pathogenic (-)
12-109768214-C-G		not specified	Uncertain significance (Aug 15, 2023)
12-109768258-T-C		not specified	Uncertain significance (Oct 12, 2024)
12-109768293-G-A		not specified	Uncertain significance (Nov 09, 2024)
12-109768329-A-G		not specified	Uncertain significance (Feb 16, 2023)
12-109768347-G-A		not specified	Likely benign (Sep 26, 2024)
12-109768350-G-A		not specified	Uncertain significance (May 16, 2023)
12-109768366-C-T		not specified	Uncertain significance (Aug 21, 2024)
12-109768367-G-A			Benign (May 19, 2018)
12-109768398-T-G		not specified	Uncertain significance (Jun 03, 2024)
12-109768407-C-A		not specified	Uncertain significance (Sep 30, 2024)
12-109768425-C-T		not specified	Uncertain significance (May 07, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP