AAMDC

adipogenesis associated Mth938 domain containing

Basic information

Region (hg38): 11:77821109-77918432

Previous symbols: [ "C11orf67" ]

Links

ENSG00000087884NCBI:28971HGNC:30205Uniprot:Q9H7C9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AAMDC 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
2
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
1
clinvar
1
splice region
0
non coding
21
clinvar
1
clinvar
22
Total 0 0 23 2 0

Variants in AAMDC

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

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

Position Type Phenotype Significance ClinVar
11-77842549-G-C not specified Uncertain significance (May 05, 2023)2551413
11-77869729-C-T not specified Uncertain significance (Apr 19, 2024)3260658
11-77869770-G-C not specified Uncertain significance (Nov 15, 2021)2261216
11-77878963-G-T not specified Uncertain significance (May 24, 2024)3286231
11-77878990-G-C not specified Uncertain significance (Oct 03, 2022)2315951
11-77879019-C-T not specified Uncertain significance (Aug 26, 2022)2388370
11-77879064-C-T not specified Uncertain significance (Dec 15, 2023)3110188
11-77879076-C-A not specified Uncertain significance (Jun 24, 2022)2297524
11-77879077-G-A not specified Uncertain significance (Mar 25, 2024)3286234
11-77879116-C-G not specified Uncertain significance (May 31, 2023)2513801
11-77883853-G-A not specified Uncertain significance (May 02, 2024)3286238
11-77883873-C-T not specified Uncertain significance (Sep 29, 2023)3110187
11-77891335-T-A not specified Uncertain significance (Feb 23, 2023)2488956
11-77891363-T-C not specified Uncertain significance (Apr 01, 2024)3286236
11-77891405-G-A not specified Uncertain significance (Feb 27, 2024)3110186
11-77891428-G-A not specified Uncertain significance (May 15, 2023)2514727
11-77891459-G-A not specified Uncertain significance (Jan 03, 2024)3110185
11-77891462-T-C not specified Uncertain significance (Nov 08, 2022)2406424
11-77891718-C-T not specified Uncertain significance (May 26, 2024)3286241
11-77891739-T-C not specified Uncertain significance (Oct 03, 2023)3110184
11-77891764-T-C not specified Uncertain significance (Sep 17, 2021)2380078
11-77891772-C-T not specified Uncertain significance (Aug 15, 2023)2591484
11-77891775-G-A not specified Uncertain significance (May 18, 2023)2548533
11-77891776-G-A not specified Uncertain significance (Dec 28, 2023)3110183
11-77891791-G-C not specified Uncertain significance (Sep 21, 2021)2231993

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
AAMDCprotein_codingprotein_codingENST00000526415 397324
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000002270.16412563911051257450.000422
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1276865.11.040.00000314777
Missense in Polyphen3428.9891.1729347
Synonymous-0.7152722.71.199.71e-7248
Loss of Function-0.38586.911.163.79e-773

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001780.000178
Ashkenazi Jewish0.000.00
East Asian0.0008700.000870
Finnish0.00004620.0000462
European (Non-Finnish)0.0001230.000123
Middle Eastern0.0008700.000870
South Asian0.002320.00229
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play a role in preadipocyte differentiation and adipogenesis. {ECO:0000250}.;

Recessive Scores

pRec
0.113

Intolerance Scores

loftool
rvis_EVS
0.28
rvis_percentile_EVS
71.08

Haploinsufficiency Scores

pHI
0.0769
hipred
Y
hipred_score
0.514
ghis
0.499

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Aamdc
Phenotype

Gene ontology

Biological process
positive regulation of fat cell differentiation
Cellular component
cytoplasm
Molecular function
protein binding