AAMDC
Basic information
Region (hg38): 11:77821109-77918432
Previous symbols: [ "C11orf67" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 0 | |||||
non coding | 21 | 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) | ||
11-77869729-C-T | not specified | Uncertain significance (Apr 19, 2024) | ||
11-77869770-G-C | not specified | Uncertain significance (Nov 15, 2021) | ||
11-77878963-G-T | not specified | Uncertain significance (May 24, 2024) | ||
11-77878990-G-C | not specified | Uncertain significance (Oct 03, 2022) | ||
11-77879019-C-T | not specified | Uncertain significance (Aug 26, 2022) | ||
11-77879064-C-T | not specified | Uncertain significance (Dec 15, 2023) | ||
11-77879076-C-A | not specified | Uncertain significance (Jun 24, 2022) | ||
11-77879077-G-A | not specified | Uncertain significance (Mar 25, 2024) | ||
11-77879116-C-G | not specified | Uncertain significance (May 31, 2023) | ||
11-77883853-G-A | not specified | Uncertain significance (May 02, 2024) | ||
11-77883873-C-T | not specified | Uncertain significance (Sep 29, 2023) | ||
11-77891335-T-A | not specified | Uncertain significance (Feb 23, 2023) | ||
11-77891363-T-C | not specified | Uncertain significance (Apr 01, 2024) | ||
11-77891405-G-A | not specified | Uncertain significance (Feb 27, 2024) | ||
11-77891428-G-A | not specified | Uncertain significance (May 15, 2023) | ||
11-77891459-G-A | not specified | Uncertain significance (Jan 03, 2024) | ||
11-77891462-T-C | not specified | Uncertain significance (Nov 08, 2022) | ||
11-77891718-C-T | not specified | Uncertain significance (May 26, 2024) | ||
11-77891739-T-C | not specified | Uncertain significance (Oct 03, 2023) | ||
11-77891764-T-C | not specified | Uncertain significance (Sep 17, 2021) | ||
11-77891772-C-T | not specified | Uncertain significance (Aug 15, 2023) | ||
11-77891775-G-A | not specified | Uncertain significance (May 18, 2023) | ||
11-77891776-G-A | not specified | Uncertain significance (Dec 28, 2023) | ||
11-77891791-G-C | not specified | Uncertain significance (Sep 21, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
AAMDC | protein_coding | protein_coding | ENST00000526415 | 3 | 97324 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000227 | 0.164 | 125639 | 1 | 105 | 125745 | 0.000422 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.127 | 68 | 65.1 | 1.04 | 0.00000314 | 777 |
Missense in Polyphen | 34 | 28.989 | 1.1729 | 347 | ||
Synonymous | -0.715 | 27 | 22.7 | 1.19 | 9.71e-7 | 248 |
Loss of Function | -0.385 | 8 | 6.91 | 1.16 | 3.79e-7 | 73 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000178 | 0.000178 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000870 | 0.000870 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000123 | 0.000123 |
Middle Eastern | 0.000870 | 0.000870 |
South Asian | 0.00232 | 0.00229 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aamdc
- Phenotype
Gene ontology
- Biological process
- positive regulation of fat cell differentiation
- Cellular component
- cytoplasm
- Molecular function
- protein binding