XGY2

XG pseudogene, Y-linked 2

Basic information

Region (hg38): Y:2752083-2854641

Previous symbols: [ "XGPY2" ]

Links

ENSG00000290840 ∙ NCBI:100132596 ∙ ∙ HGNC:34022 ∙ ∙ ∙ 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 XGY2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the XGY2 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						0
Total	0	0	0	0	0

Variants in XGY2

This is a list of pathogenic ClinVar variants found in the XGY2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
Y-2786976-T-C		not specified	Likely benign (-)
Y-2787001-C-T			Uncertain significance (Jun 23, 2022)
Y-2787015-G-T		46,XY sex reversal 1	Uncertain significance (Sep 13, 2023)
Y-2787033-AG-A		46,XY sex reversal 1	Uncertain significance (Nov 02, 2022)
Y-2787036-T-G		46,XY disorder of sex development	Benign (Jun 13, 2024)
Y-2787132-G-A		46,XY sex reversal 1	Uncertain significance (Nov 28, 2023)
Y-2787139-G-A		46,XY sex reversal 1	Benign (Oct 13, 2022)
Y-2787207-G-A		46,XY sex reversal 1	Pathogenic (May 01, 1997)
Y-2787224-T-A		46,XY sex reversal 1	Pathogenic (Jul 01, 2002)
Y-2787224-T-C		46,XY sex reversal 1	Pathogenic (Jan 25, 2019)
Y-2787236-TTCTC-T		46,XY sex reversal 1	Pathogenic (Feb 01, 1992)
Y-2787258-A-G			Likely benign (Sep 13, 2018)
Y-2787265-T-C		46,XY sex reversal 1	Likely benign (Dec 31, 2019)
Y-2787267-C-T		46,XY sex reversal 1	Pathogenic (Aug 01, 1993)
Y-2787273-G-A		46,XX sex reversal 1;46,XY sex reversal 1	Pathogenic (Nov 03, 2015)
Y-2787278-A-G		46,XY sex reversal 1	Pathogenic (Dec 01, 1992)
Y-2787279-AT-A		46,XY sex reversal 1	Pathogenic (Jan 01, 1993)
Y-2787283-C-A		46,XY sex reversal 1	Uncertain significance (Aug 14, 2020)
Y-2787284-C-T		46,XY sex reversal 1	Pathogenic (Aug 01, 1994)
Y-2787287-T-A		46,XY sex reversal 1	Pathogenic (Jan 01, 1993)
Y-2787291-C-T		not specified	Uncertain significance (Sep 17, 2018)
Y-2787299-G-A		46,XX sex reversal 1	Likely pathogenic (Nov 09, 2022)
Y-2787310-C-T		SRY-related disorder	Pathogenic (Nov 13, 2023)
Y-2787313-C-CG		46,XY sex reversal 1	Pathogenic (Sep 02, 2021)
Y-2787316-G-C		46,XY sex reversal 1	Pathogenic (Dec 14, 2017)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP