SLC22A17
Basic information
Region (hg38): 14:23346313-23352912
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 SLC22A17 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 | 3 | |||||
missense | 36 | 36 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 1 | |||||
Total | 0 | 0 | 37 | 2 | 1 |
Variants in SLC22A17
This is a list of pathogenic ClinVar variants found in the SLC22A17 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
14-23346670-G-A | not specified | Uncertain significance (Mar 01, 2024) | ||
14-23346713-G-A | not specified | Uncertain significance (Nov 13, 2023) | ||
14-23346716-G-C | not specified | Uncertain significance (Mar 20, 2023) | ||
14-23346718-A-G | not specified | Uncertain significance (Dec 22, 2023) | ||
14-23346728-G-A | not specified | Uncertain significance (Dec 31, 2023) | ||
14-23346733-C-T | not specified | Uncertain significance (Jul 14, 2022) | ||
14-23346773-G-A | not specified | Uncertain significance (Nov 18, 2022) | ||
14-23346784-G-A | not specified | Uncertain significance (Mar 29, 2024) | ||
14-23346800-T-C | not specified | Uncertain significance (Jul 12, 2023) | ||
14-23346872-G-T | not specified | Uncertain significance (Dec 01, 2022) | ||
14-23346884-C-T | not specified | Uncertain significance (Feb 06, 2024) | ||
14-23347132-G-A | not specified | Uncertain significance (Feb 15, 2023) | ||
14-23347132-G-T | not specified | Uncertain significance (Nov 09, 2023) | ||
14-23347197-G-A | not specified | Uncertain significance (Jun 21, 2023) | ||
14-23347198-C-T | not specified | Uncertain significance (Feb 27, 2023) | ||
14-23347461-T-A | not specified | Uncertain significance (Mar 08, 2024) | ||
14-23347555-A-G | not specified | Uncertain significance (Feb 15, 2023) | ||
14-23347616-A-T | not specified | Uncertain significance (Oct 22, 2021) | ||
14-23347634-C-T | not specified | Uncertain significance (Jan 04, 2024) | ||
14-23347711-C-T | not specified | Uncertain significance (Aug 28, 2023) | ||
14-23347894-G-C | not specified | Uncertain significance (Mar 11, 2024) | ||
14-23347909-A-G | not specified | Uncertain significance (Jan 26, 2023) | ||
14-23347916-T-G | not specified | Uncertain significance (Jul 06, 2021) | ||
14-23347964-A-T | not specified | Uncertain significance (Oct 17, 2023) | ||
14-23348218-C-T | not specified | Uncertain significance (Sep 16, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SLC22A17 | protein_coding | protein_coding | ENST00000397267 | 9 | 6607 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0106 | 0.989 | 125731 | 0 | 12 | 125743 | 0.0000477 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.42 | 246 | 317 | 0.776 | 0.0000187 | 3366 |
Missense in Polyphen | 95 | 146.58 | 0.6481 | 1462 | ||
Synonymous | 0.739 | 127 | 138 | 0.920 | 0.00000783 | 1231 |
Loss of Function | 3.11 | 8 | 24.7 | 0.324 | 0.00000158 | 214 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000289 | 0.0000289 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000481 | 0.0000462 |
European (Non-Finnish) | 0.0000353 | 0.0000352 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000164 | 0.000163 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Cell surface receptor for LCN2 (24p3) that plays a key role in iron homeostasis and transport. Able to bind iron-bound LCN2 (holo-24p3), followed by internalization of holo-24p3 and release of iron, thereby increasing intracellular iron concentration and leading to inhibition of apoptosis. Also binds iron-free LCN2 (apo-24p3), followed by internalization of apo-24p3 and its association with an intracellular siderophore, leading to iron chelation and iron transfer to the extracellular medium, thereby reducing intracellular iron concentration and resulting in apoptosis (By similarity). {ECO:0000250}.;
- Pathway
- Transport of small molecules;Iron uptake and transport
(Consensus)
Recessive Scores
- pRec
- 0.128
Intolerance Scores
- loftool
- 0.262
- rvis_EVS
- -0.54
- rvis_percentile_EVS
- 20.54
Haploinsufficiency Scores
- pHI
- 0.389
- hipred
- N
- hipred_score
- 0.420
- ghis
- 0.614
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.361
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Slc22a17
- Phenotype
Gene ontology
- Biological process
- cellular iron ion homeostasis;siderophore transport;transmembrane transport
- Cellular component
- vacuolar membrane;plasma membrane;integral component of plasma membrane;integral component of organelle membrane
- Molecular function
- transmembrane signaling receptor activity;transmembrane transporter activity