MAGEA3-DT

MAGEA3 divergent transcript, the group of Divergent transcripts

Basic information

Region (hg38): X:152574677-152698700

Links

ENSG00000287394 ∙ NCBI:105373370 ∙ ∙ HGNC:56247 ∙ ∙ ∙ 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 MAGEA3-DT gene.

• Inborn genetic diseases (10 variants)
• not provided (7 variants)
• not specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEA3-DT 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			13	4	1	18
Total	0	0	13	4	1

Variants in MAGEA3-DT

This is a list of pathogenic ClinVar variants found in the MAGEA3-DT region.

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

Position	Type	Phenotype	Significance	ClinVar
X-152638281-A-G		not specified	Uncertain significance (Jun 05, 2024)
X-152645559-G-A		not specified	Uncertain significance (Aug 20, 2024)
X-152646986-A-T		not specified	Uncertain significance (Oct 19, 2024)
X-152647038-C-T		not specified	Uncertain significance (Sep 10, 2024)
X-152647062-C-T		not specified	Uncertain significance (Oct 16, 2023)
X-152647078-T-C		not specified	Uncertain significance (Jun 05, 2024)
X-152647085-C-G		not specified	Uncertain significance (Nov 13, 2024)
X-152647110-A-G		not specified	Uncertain significance (Sep 03, 2024)
X-152647124-C-T			Likely benign (Nov 01, 2022)
X-152647124-CGT-C			Uncertain significance (Sep 01, 2019)
X-152649258-A-G			Likely benign (Nov 01, 2022)
X-152649297-A-G		not specified	Uncertain significance (Sep 26, 2023)
X-152649330-A-G		not specified	Uncertain significance (May 13, 2024)
X-152649751-C-T			Uncertain significance (Jun 01, 2023)
X-152649841-G-A		not specified	Uncertain significance (Oct 12, 2024)
X-152650513-C-T			Likely benign (May 01, 2023)
X-152650549-C-G		not specified	Uncertain significance (Nov 14, 2023)
X-152650577-A-G		not specified	Likely benign (Sep 26, 2024)
X-152651553-C-T		not specified	Uncertain significance (Nov 09, 2024)
X-152651583-C-G		not specified	Uncertain significance (Dec 03, 2024)
X-152651588-A-G		not specified	Likely benign (Jul 10, 2024)
X-152651700-G-A		not specified	Uncertain significance (Jan 04, 2024)
X-152651714-C-T			Uncertain significance (-)
X-152651735-G-A		not specified	Uncertain significance (Aug 14, 2023)
X-152652614-C-G		not specified	Uncertain significance (Aug 27, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP