MAGEA8

MAGE family member A8, the group of MAGE family

Basic information

Region (hg38): X:149881141-149885835

Previous symbols: [ "MAGE8" ]

Links

ENSG00000156009NCBI:4107OMIM:300341HGNC:6806Uniprot:P43361AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAGEA8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGEA8 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
1
clinvar
1
missense
21
clinvar
21
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 21 1 0

Variants in MAGEA8

This is a list of pathogenic ClinVar variants found in the MAGEA8 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-149884285-C-G not specified Uncertain significance (Oct 12, 2022)2318566
X-149884300-T-C not specified Uncertain significance (Apr 20, 2023)2539170
X-149884309-G-A not specified Uncertain significance (Sep 29, 2023)3122087
X-149884391-C-A not specified Uncertain significance (Apr 26, 2023)2521755
X-149884400-C-G not specified Uncertain significance (Aug 08, 2023)2601011
X-149884410-C-G not specified Uncertain significance (Mar 07, 2023)2495449
X-149884429-G-C not specified Uncertain significance (Nov 15, 2021)2260810
X-149884472-G-A not specified Uncertain significance (Aug 28, 2023)2595651
X-149884475-C-T not specified Uncertain significance (Jul 08, 2021)2341545
X-149884586-A-G not specified Uncertain significance (Nov 19, 2022)2328367
X-149884595-T-G not specified Uncertain significance (Apr 23, 2024)3292598
X-149884598-G-A not specified Uncertain significance (Dec 12, 2023)3122086
X-149884684-A-G not specified Uncertain significance (Jan 07, 2022)2270841
X-149884858-G-A not specified Uncertain significance (Apr 23, 2024)3292597
X-149884865-G-A not specified Uncertain significance (Feb 17, 2024)3122088
X-149884871-C-T not specified Uncertain significance (Dec 09, 2023)3122089
X-149884891-A-G Likely benign (-)1206170
X-149884922-G-A not specified Uncertain significance (Oct 12, 2022)2375834
X-149884998-T-C Likely benign (May 01, 2022)2661622
X-149885036-A-G not specified Uncertain significance (Mar 07, 2024)3122090
X-149885066-C-T not specified Uncertain significance (Oct 02, 2023)3122091
X-149885084-G-A not specified Uncertain significance (Jan 04, 2022)2269648
X-149885089-G-A not specified Uncertain significance (May 08, 2024)3292600
X-149885143-G-C not specified Uncertain significance (Sep 14, 2022)2311876
X-149885183-A-G not specified Uncertain significance (Apr 22, 2022)2284825

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAGEA8protein_codingprotein_codingENST00000535454 14669
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3331161270.9170.000009932073
Missense in Polyphen3136.9760.83839747
Synonymous0.6894753.40.8800.00000429650
Loss of Function

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

Function
FUNCTION: Not known, though may play a role in embryonal development and tumor transformation or aspects of tumor progression.;

Intolerance Scores

loftool
0.522
rvis_EVS
0.44
rvis_percentile_EVS
77.7

Haploinsufficiency Scores

pHI
0.0649
hipred
N
hipred_score
0.112
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0713

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Gene ontology

Biological process
biological_process
Cellular component
cellular_component
Molecular function
molecular_function;protein binding