PLS1
Basic information
Region (hg38): 3:142596392-142713664
Links
Phenotypes
GenCC
Source:
- hearing loss, autosomal dominant 76 (Strong), mode of inheritance: AD
- hearing loss, autosomal dominant 76 (Limited), mode of inheritance: AD
- autosomal dominant nonsyndromic hearing loss (Supportive), mode of inheritance: AD
- hearing loss, autosomal dominant 76 (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Deafness, autosomal dominant 76 | AD | Audiologic/Otolaryngologic | Early recognition and treatment of hearing impairment may improve outcomes, including speech and language development | Audiologic/Otolaryngologic | 30872814; 31397523 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (38 variants)
- Inborn genetic diseases (29 variants)
- Hearing loss, autosomal dominant 76 (5 variants)
- PLS1-related condition (4 variants)
- Hearing impairment (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLS1 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 | 4 | |||||
missense | 36 | 41 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 1 | 1 | ||||
non coding ? | 22 | 22 | ||||
Total | 0 | 0 | 38 | 3 | 28 |
Variants in PLS1
This is a list of pathogenic ClinVar variants found in the PLS1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
3-142664153-A-T | Benign (May 26, 2021) | |||
3-142664448-G-T | Benign (May 15, 2021) | |||
3-142664476-G-A | Benign (May 15, 2021) | |||
3-142669392-A-C | not specified | Uncertain significance (Feb 08, 2024) | ||
3-142669455-C-T | Uncertain significance (Apr 19, 2022) | |||
3-142669476-C-G | Inborn genetic diseases | Uncertain significance (Oct 16, 2023) | ||
3-142669676-TGA-T | Benign (May 26, 2021) | |||
3-142670783-A-G | Benign (May 24, 2021) | |||
3-142670827-G-T | Benign (May 15, 2021) | |||
3-142671036-G-A | Inborn genetic diseases | Uncertain significance (Aug 30, 2021) | ||
3-142671067-T-G | Benign (May 06, 2021) | |||
3-142671086-A-G | Inborn genetic diseases | Uncertain significance (May 22, 2023) | ||
3-142671159-G-T | Benign (May 26, 2021) | |||
3-142671296-C-A | Benign (May 22, 2021) | |||
3-142676111-A-G | Benign (May 22, 2021) | |||
3-142676175-T-C | Bilateral sensorineural hearing impairment;Autosomal dominant nonsyndromic hearing loss • Hearing loss, autosomal dominant 76 | Pathogenic/Likely pathogenic (Feb 21, 2020) | ||
3-142676221-G-A | PLS1-related disorder | Likely benign (Jun 09, 2020) | ||
3-142676230-A-G | PLS1-related disorder | Benign (May 06, 2021) | ||
3-142676275-T-A | Inborn genetic diseases | Uncertain significance (Oct 10, 2023) | ||
3-142678086-G-GA | Hearing loss, autosomal dominant 76 | Uncertain significance (Oct 01, 2021) | ||
3-142678237-CT-C | Benign (May 22, 2021) | |||
3-142683985-CT-C | PLS1-related disorder | Likely benign (Sep 14, 2020) | ||
3-142684009-A-C | PLS1-related disorder | Uncertain significance (May 23, 2023) | ||
3-142684073-C-T | Benign (May 05, 2021) | |||
3-142684133-T-C | PLS1-related disorder | Likely benign (Apr 01, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PLS1 | protein_coding | protein_coding | ENST00000337777 | 15 | 117278 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000113 | 1.00 | 125679 | 0 | 68 | 125747 | 0.000270 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.48 | 252 | 327 | 0.770 | 0.0000161 | 4160 |
Missense in Polyphen | 77 | 111.82 | 0.68861 | 1451 | ||
Synonymous | 1.16 | 104 | 120 | 0.866 | 0.00000605 | 1165 |
Loss of Function | 3.05 | 14 | 32.8 | 0.426 | 0.00000171 | 412 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000201 | 0.000185 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.000522 | 0.000519 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.000653 | 0.000652 |
dbNSFP
Source:
- Function
- FUNCTION: Actin-bundling protein in the absence of calcium.;
Recessive Scores
- pRec
- 0.163
Intolerance Scores
- loftool
- 0.0938
- rvis_EVS
- -0.4
- rvis_percentile_EVS
- 26.93
Haploinsufficiency Scores
- pHI
- 0.710
- hipred
- Y
- hipred_score
- 0.690
- ghis
- 0.449
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.786
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pls1
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; digestive/alimentary phenotype; immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cellular phenotype;
Gene ontology
- Biological process
- intestinal D-glucose absorption;regulation of microvillus length;positive regulation of multicellular organism growth;actin filament bundle assembly;actin filament network formation;terminal web assembly;positive regulation of protein localization to plasma membrane
- Cellular component
- cytoplasm;actin filament;brush border;actin filament bundle;extracellular exosome;terminal web
- Molecular function
- structural constituent of cytoskeleton;calcium ion binding;actin filament binding