ZFPM2-AS1

ZFPM2 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 8:105546089-106060524

Links

ENSG00000251003 ∙ NCBI:102723356 ∙ ∙ HGNC:50698 ∙ ∙ ∙ 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 ZFPM2-AS1 gene.

• 46,XY sex reversal 9 (142 variants)
• not provided (62 variants)
• Inborn genetic diseases (28 variants)
• not specified (25 variants)
• Diaphragmatic hernia 3 (9 variants)
• Tetralogy of Fallot (8 variants)
• 46,XY sex reversal 3 (8 variants)
• ZFPM2-related condition (7 variants)
• Double outlet right ventricle (3 variants)
• 46,XY sex reversal 9;Diaphragmatic hernia 3;Tetralogy of Fallot (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ZFPM2-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	9	5	113	69	29	225
Total	9	5	113	69	29

Highest pathogenic variant AF is 0.0000329

Variants in ZFPM2-AS1

This is a list of pathogenic ClinVar variants found in the ZFPM2-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
8-105561350-C-T		not specified • Tetralogy of Fallot • 46,XY sex reversal 9	Benign (Feb 01, 2024)
8-105561358-T-C		46,XY sex reversal 9	Likely benign (Dec 13, 2019)
8-105561359-G-A		46,XY sex reversal 9	Likely benign (Nov 19, 2019)
8-105561361-A-C		ZFPM2-related disorder	Likely pathogenic (Sep 09, 2024)
8-105561383-A-G		46,XY sex reversal 9 • Inborn genetic diseases	Uncertain significance (Mar 20, 2023)
8-105561394-A-C		Inborn genetic diseases	Uncertain significance (Jan 17, 2024)
8-105561395-C-T		Diaphragmatic hernia 3	Pathogenic/Likely pathogenic (Feb 20, 2024)
8-105561410-C-T		Diaphragmatic hernia 3	Pathogenic (-)
8-105561415-G-T		Inborn genetic diseases	Uncertain significance (Sep 20, 2023)
8-105561418-A-G		46,XY sex reversal 9	Likely benign (Aug 20, 2020)
8-105561419-C-T		Inborn genetic diseases	Uncertain significance (Jan 16, 2024)
8-105561425-G-T		46,XY sex reversal 9	Uncertain significance (Jan 15, 2019)
8-105561444-C-T			Uncertain significance (May 14, 2020)
8-105561445-G-A		46,XY sex reversal 9	Likely benign (Aug 16, 2022)
8-105561477-C-A			Uncertain significance (Mar 09, 2023)
8-105561496-C-T		46,XY sex reversal 9	Likely benign (Mar 26, 2023)
8-105561497-G-A		46,XY sex reversal 9	Likely benign (Dec 17, 2023)
8-105561691-C-T			Benign (Nov 13, 2018)
8-105634236-C-A		46,XY sex reversal 9	Uncertain significance (Oct 28, 2021)
8-105634241-T-C		46,XY sex reversal 9	Benign (Sep 23, 2022)
8-105634248-G-T			Uncertain significance (Nov 18, 2022)
8-105634259-A-C		Inborn genetic diseases	Uncertain significance (May 02, 2024)
8-105634261-G-C		46,XY sex reversal 9 • Inborn genetic diseases	Conflicting classifications of pathogenicity (Nov 07, 2022)
8-105634267-A-G		46,XY sex reversal 9	Conflicting classifications of pathogenicity (Aug 01, 2022)
8-105634269-G-C		46,XY sex reversal 9	Uncertain significance (Sep 08, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP