SLC25A30
solute carrier family 25 member 30, the group of Solute carrier family 25
Basic information
Region (hg38): 13:45393316-45418455
Links
Phenotypes
GenCC
Source:
No genCC data.
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 SLC25A30 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 | 11 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 11 | 0 | 0 |
Variants in SLC25A30
This is a list of pathogenic ClinVar variants found in the SLC25A30 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 13-45396000-C-T | not specified | Uncertain significance (Jun 26, 2024) | ||
| 13-45397308-A-G | not specified | Uncertain significance (Mar 06, 2023) | ||
| 13-45398959-G-A | not specified | Uncertain significance (Jun 24, 2022) | ||
| 13-45398968-T-C | not specified | Uncertain significance (Nov 03, 2023) | ||
| 13-45398977-C-T | not specified | Uncertain significance (Nov 10, 2024) | ||
| 13-45398989-C-T | not specified | Uncertain significance (Feb 14, 2023) | ||
| 13-45401092-G-A | not specified | Uncertain significance (Jan 31, 2023) | ||
| 13-45402296-C-A | not specified | Uncertain significance (Oct 02, 2023) | ||
| 13-45402326-T-C | not specified | Uncertain significance (Oct 05, 2022) | ||
| 13-45404343-G-A | not specified | Uncertain significance (Apr 22, 2024) | ||
| 13-45404344-G-A | not specified | Uncertain significance (Jan 23, 2024) | ||
| 13-45405957-C-T | not specified | Uncertain significance (Oct 07, 2024) | ||
| 13-45405966-G-A | not specified | Uncertain significance (Oct 16, 2024) | ||
| 13-45408934-A-G | not specified | Uncertain significance (Nov 09, 2024) | ||
| 13-45408957-C-T | not specified | Uncertain significance (Aug 20, 2024) | ||
| 13-45408990-C-T | not specified | Uncertain significance (Aug 17, 2022) | ||
| 13-45409023-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
| 13-45409023-G-T | not specified | Uncertain significance (Nov 10, 2024) | ||
| 13-45409045-G-A | not specified | Uncertain significance (Oct 10, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SLC25A30 | protein_coding | protein_coding | ENST00000519676 | 9 | 25140 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 6.17e-9 | 0.427 | 125679 | 0 | 69 | 125748 | 0.000274 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.931 | 134 | 168 | 0.798 | 0.00000933 | 1872 |
| Missense in Polyphen | 46 | 68.233 | 0.67416 | 736 | ||
| Synonymous | 0.625 | 57 | 63.3 | 0.900 | 0.00000366 | 576 |
| Loss of Function | 0.930 | 15 | 19.4 | 0.772 | 0.00000106 | 210 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000795 | 0.000794 |
| Ashkenazi Jewish | 0.0000993 | 0.0000992 |
| East Asian | 0.000326 | 0.000326 |
| Finnish | 0.0000956 | 0.0000924 |
| European (Non-Finnish) | 0.000195 | 0.000193 |
| Middle Eastern | 0.000326 | 0.000326 |
| South Asian | 0.000458 | 0.000457 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Probable transporter. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- 0.532
- rvis_EVS
- -0.09
- rvis_percentile_EVS
- 46.74
Haploinsufficiency Scores
- pHI
- hipred
- N
- hipred_score
- 0.306
- ghis
- 0.469
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.167
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc25a30
- Phenotype
- skeleton phenotype; vision/eye phenotype; hematopoietic system 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);
Gene ontology
- Biological process
- mitochondrial transport;biological_process;sulfate transport;thiosulfate transport;oxaloacetate transport;phosphate ion transmembrane transport;succinate transmembrane transport;malate transmembrane transport;oxaloacetate(2-) transmembrane transport;sulfate transmembrane transport
- Cellular component
- mitochondrion;mitochondrial inner membrane;integral component of membrane
- Molecular function
- molecular_function;protein binding;sulfate transmembrane transporter activity;thiosulfate transmembrane transporter activity;oxaloacetate transmembrane transporter activity;malate transmembrane transporter activity;succinate transmembrane transporter activity;antiporter activity