SLC25A21
Basic information
Region (hg38): 14:36677920-37172606
Links
Phenotypes
GenCC
Source:
- mitochondrial DNA depletion syndrome 18 (Limited), mode of inheritance: AR
- mitochondrial DNA depletion syndrome 18 (Limited), mode of inheritance: Unknown
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Mitochondrial DNA depletion syndrome 18 | AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Biochemical; Neurologic | 29517768 |
ClinVar
This is a list of variants' phenotypes submitted to
- Mitochondrial DNA depletion syndrome 18 (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A21 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 | 13 | 13 | ||||
missense | 39 | 49 | ||||
nonsense | 4 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 2 | |||||
splice region | 4 | 2 | 2 | 8 | ||
non coding | 16 | 10 | 26 | |||
Total | 1 | 0 | 45 | 35 | 15 |
Highest pathogenic variant AF is 0.0000395
Variants in SLC25A21
This is a list of pathogenic ClinVar variants found in the SLC25A21 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-36680661-C-A | Benign (Jan 24, 2024) | |||
14-36680698-A-T | not specified | Uncertain significance (Jul 19, 2022) | ||
14-36680699-C-T | Uncertain significance (Oct 27, 2023) | |||
14-36680704-A-G | not specified | Uncertain significance (Apr 19, 2024) | ||
14-36680724-A-G | Likely benign (Nov 24, 2023) | |||
14-36680738-G-GT | Benign (Jan 31, 2024) | |||
14-36683843-T-C | Uncertain significance (Nov 10, 2021) | |||
14-36683852-G-A | not specified | Uncertain significance (Jun 23, 2021) | ||
14-36684722-AAATAAG-A | Likely benign (Sep 22, 2022) | |||
14-36684735-T-C | Likely benign (Oct 15, 2021) | |||
14-36684751-C-G | Uncertain significance (Jul 11, 2022) | |||
14-36684767-C-A | not specified | Uncertain significance (Aug 28, 2023) | ||
14-36684769-T-A | Uncertain significance (Jun 28, 2022) | |||
14-36684769-T-C | not specified | Uncertain significance (May 31, 2022) | ||
14-36684771-G-A | Uncertain significance (Aug 10, 2022) | |||
14-36684796-T-A | not specified | Uncertain significance (Jun 24, 2022) | ||
14-36684802-C-G | not specified | Uncertain significance (Mar 18, 2024) | ||
14-36684823-G-A | Uncertain significance (Nov 21, 2022) | |||
14-36684834-T-C | Mitochondrial DNA depletion syndrome 18 | Pathogenic (Jun 28, 2023) | ||
14-36684861-A-T | Uncertain significance (Nov 15, 2022) | |||
14-36684865-A-G | Uncertain significance (Dec 22, 2022) | |||
14-36684871-T-C | Uncertain significance (Mar 18, 2022) | |||
14-36684877-C-T | Uncertain significance (Nov 13, 2023) | |||
14-36684878-C-T | Likely benign (Dec 22, 2023) | |||
14-36684893-C-A | Likely benign (Feb 24, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLC25A21 | protein_coding | protein_coding | ENST00000331299 | 10 | 494436 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
1.45e-11 | 0.0548 | 125602 | 0 | 145 | 125747 | 0.000577 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.0246 | 149 | 150 | 0.994 | 0.00000681 | 1905 |
Missense in Polyphen | 73 | 67.007 | 1.0894 | 903 | ||
Synonymous | -0.375 | 57 | 53.5 | 1.07 | 0.00000254 | 569 |
Loss of Function | 0.120 | 17 | 17.5 | 0.969 | 9.04e-7 | 217 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000479 | 0.000478 |
Ashkenazi Jewish | 0.00180 | 0.00179 |
East Asian | 0.00247 | 0.00239 |
Finnish | 0.000279 | 0.000277 |
European (Non-Finnish) | 0.000331 | 0.000325 |
Middle Eastern | 0.00247 | 0.00239 |
South Asian | 0.000842 | 0.000817 |
Other | 0.000169 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Transports C5-C7 oxodicarboxylates across the inner membranes of mitochondria. Can transport 2-oxoadipate, 2- oxoglutarate, adipate, glutarate, and to a lesser extent, pimelate, 2-oxopimelate, 2-aminoadipate, oxaloacetate, and citrate.;
- Pathway
- Lysine catabolism;Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism;Metabolism of amino acids and derivatives;Metabolism;Lysine metabolism
(Consensus)
Recessive Scores
- pRec
- 0.267
Intolerance Scores
- loftool
- 0.617
- rvis_EVS
- 0.73
- rvis_percentile_EVS
- 86.08
Haploinsufficiency Scores
- pHI
- 0.315
- hipred
- N
- hipred_score
- 0.351
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.336
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc25a21
- Phenotype
- growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); craniofacial phenotype; homeostasis/metabolism phenotype; skeleton phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- lysine catabolic process;alpha-ketoglutarate transport;transmembrane transport
- Cellular component
- mitochondrial inner membrane;integral component of membrane
- Molecular function
- alpha-ketoglutarate transmembrane transporter activity