SCARF1
Basic information
Region (hg38): 17:1633857-1645744
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 SCARF1 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 | 1 | |||||
missense | 54 | 60 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 54 | 5 | 2 |
Variants in SCARF1
This is a list of pathogenic ClinVar variants found in the SCARF1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-1634789-A-G | Benign (Jan 08, 2018) | |||
17-1634845-C-G | not specified | Uncertain significance (Mar 23, 2022) | ||
17-1634853-G-C | not specified | Uncertain significance (May 24, 2023) | ||
17-1634949-G-A | not specified | Likely benign (Jun 28, 2022) | ||
17-1634954-G-A | not specified | Uncertain significance (Jul 05, 2023) | ||
17-1634987-T-C | not specified | Likely benign (Jul 09, 2021) | ||
17-1635017-A-G | not specified | Uncertain significance (Sep 16, 2021) | ||
17-1635018-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
17-1635024-G-A | not specified | Uncertain significance (Oct 26, 2021) | ||
17-1635039-G-A | not specified | Uncertain significance (Jun 09, 2022) | ||
17-1635056-G-A | not specified | Uncertain significance (Jan 03, 2024) | ||
17-1635080-A-C | not specified | Uncertain significance (Mar 01, 2024) | ||
17-1635081-C-A | not specified | Uncertain significance (Dec 07, 2023) | ||
17-1635082-C-G | not specified | Uncertain significance (Oct 04, 2022) | ||
17-1635120-G-A | not specified | Uncertain significance (Oct 06, 2022) | ||
17-1635246-T-G | not specified | Uncertain significance (Jun 30, 2022) | ||
17-1635270-G-A | not specified | Uncertain significance (Aug 02, 2021) | ||
17-1635362-C-T | not specified | Likely benign (Oct 03, 2022) | ||
17-1635389-C-G | not specified | Uncertain significance (Aug 01, 2022) | ||
17-1635443-C-T | not specified | Uncertain significance (Apr 12, 2022) | ||
17-1635455-G-A | not specified | Uncertain significance (Apr 26, 2024) | ||
17-1635471-C-G | not specified | Uncertain significance (Feb 23, 2023) | ||
17-1635485-G-A | not specified | Uncertain significance (May 24, 2023) | ||
17-1635549-C-T | not specified | Uncertain significance (Apr 18, 2023) | ||
17-1636769-A-T | not specified | Uncertain significance (Dec 15, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SCARF1 | protein_coding | protein_coding | ENST00000263071 | 11 | 11890 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
5.29e-7 | 0.998 | 125586 | 1 | 157 | 125744 | 0.000628 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.14 | 370 | 437 | 0.847 | 0.0000268 | 5254 |
Missense in Polyphen | 92 | 113.74 | 0.80887 | 1398 | ||
Synonymous | -1.01 | 208 | 190 | 1.09 | 0.0000130 | 1713 |
Loss of Function | 2.80 | 16 | 33.5 | 0.478 | 0.00000197 | 381 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000809 | 0.000802 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00136 | 0.00120 |
European (Non-Finnish) | 0.00102 | 0.000844 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000426 | 0.000425 |
Other | 0.000332 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Mediates the binding and degradation of acetylated low density lipoprotein (Ac-LDL). Mediates heterophilic interactions, suggesting a function as adhesion protein. Plays a role in the regulation of neurite-like outgrowth (By similarity). {ECO:0000250}.;
- Pathway
- Vesicle-mediated transport;Binding and Uptake of Ligands by Scavenger Receptors;Scavenging by Class F Receptors
(Consensus)
Recessive Scores
- pRec
- 0.0983
Intolerance Scores
- loftool
- 0.869
- rvis_EVS
- 2.34
- rvis_percentile_EVS
- 98.4
Haploinsufficiency Scores
- pHI
- 0.107
- hipred
- N
- hipred_score
- 0.270
- ghis
- 0.400
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0443
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Scarf1
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; normal phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; renal/urinary system phenotype; immune system phenotype;
Gene ontology
- Biological process
- cholesterol catabolic process;receptor-mediated endocytosis;cell adhesion;positive regulation of neuron projection development;neuron remodeling;dendrite development;positive regulation of axon regeneration
- Cellular component
- plasma membrane;integral component of membrane;endocytic vesicle membrane
- Molecular function
- transmembrane signaling receptor activity;scavenger receptor activity;low-density lipoprotein particle binding