TMEM86A

transmembrane protein 86A

Basic information

Region (hg38): 11:18693122-18704785

Links

ENSG00000151117NCBI:144110HGNC:26890Uniprot:Q8N2M4AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TMEM86A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM86A 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
7
clinvar
1
clinvar
8
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
2
clinvar
2
Total 0 0 9 1 0

Variants in TMEM86A

This is a list of pathogenic ClinVar variants found in the TMEM86A region.

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

Position Type Phenotype Significance ClinVar
11-18700981-G-A not specified Uncertain significance (Jul 09, 2021)2225833
11-18700999-C-A not specified Uncertain significance (Sep 28, 2022)2314249
11-18701579-T-G not specified Uncertain significance (May 09, 2023)2545854
11-18701612-C-T not specified Uncertain significance (Mar 19, 2024)3327193
11-18701777-G-A not specified Uncertain significance (Sep 22, 2022)2395001
11-18701782-C-T not specified Uncertain significance (Apr 28, 2022)2344451
11-18701804-G-A not specified Uncertain significance (Jul 19, 2023)2603633
11-18701841-C-G not specified Likely benign (Apr 07, 2023)2525014
11-18701924-A-G not specified Uncertain significance (Nov 09, 2021)2259653
11-18704503-C-T not specified Uncertain significance (Jul 05, 2023)2609666
11-18704529-T-C not specified Uncertain significance (Aug 23, 2021)3108868

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
TMEM86Aprotein_codingprotein_codingENST00000280734 311664
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.01920.9071257380101257480.0000398
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8841131430.7920.000008641522
Missense in Polyphen3858.4670.64993678
Synonymous-0.4026662.01.060.00000400531
Loss of Function1.5248.880.4514.68e-788

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001220.000122
Ashkenazi Jewish0.000.00
East Asian0.0001090.000109
Finnish0.000.00
European (Non-Finnish)0.00002640.0000264
Middle Eastern0.0001090.000109
South Asian0.00006540.0000653
Other0.000.00

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.110

Intolerance Scores

loftool
0.406
rvis_EVS
0.04
rvis_percentile_EVS
56.92

Haploinsufficiency Scores

pHI
0.278
hipred
Y
hipred_score
0.579
ghis
0.469

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.0752

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Tmem86a
Phenotype

Gene ontology

Biological process
ether lipid metabolic process
Cellular component
membrane;integral component of membrane
Molecular function
alkenylglycerophosphocholine hydrolase activity;alkenylglycerophosphoethanolamine hydrolase activity