PMVK
Basic information
Region (hg38): 1:154924740-154936719
Links
Phenotypes
GenCC
Source:
- porokeratosis 1, Mibelli type (Moderate), mode of inheritance: AD
- porokeratosis of Mibelli (Supportive), mode of inheritance: AD
- porokeratosis 1, Mibelli type (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Porokeratosis 1, multiple types | AD | 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 | Dermatologic | 26202976 |
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 PMVK 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 | 12 | 15 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 6 | |||||
Total | 0 | 1 | 12 | 2 | 8 |
Variants in PMVK
This is a list of pathogenic ClinVar variants found in the PMVK region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-154925080-GC-G | Benign (Jun 20, 2021) | |||
1-154925085-A-C | Benign (Jun 20, 2021) | |||
1-154925143-G-A | Inborn genetic diseases | Uncertain significance (May 30, 2022) | ||
1-154925157-AG-A | Porokeratosis 1, Mibelli type | Pathogenic (Jul 23, 2015) | ||
1-154925181-C-T | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | ||
1-154925258-G-T | Inborn genetic diseases | Uncertain significance (Oct 05, 2022) | ||
1-154926359-G-A | Inborn genetic diseases | Uncertain significance (Sep 26, 2023) | ||
1-154926360-T-A | Likely benign (Nov 01, 2022) | |||
1-154926383-C-A | Inborn genetic diseases | Uncertain significance (Mar 15, 2024) | ||
1-154926384-G-A | Porokeratosis 1, Mibelli type | Pathogenic (Jul 23, 2015) | ||
1-154926398-G-A | PMVK-associated autoinflammatory disorder | Uncertain significance (-) | ||
1-154926405-C-G | Inborn genetic diseases | Uncertain significance (Jul 13, 2021) | ||
1-154926405-C-T | Inborn genetic diseases | Uncertain significance (Jul 26, 2021) | ||
1-154926417-G-A | Linear porokeratosis | Likely pathogenic (May 01, 2019) | ||
1-154926423-C-T | Benign (Jun 10, 2021) | |||
1-154926441-G-A | Inborn genetic diseases | Uncertain significance (May 27, 2022) | ||
1-154926467-C-T | Linear porokeratosis | Likely pathogenic (May 01, 2019) | ||
1-154928774-A-AAAAT | Benign (Jun 19, 2021) | |||
1-154928774-A-AAAATAAAT | Benign (Jun 21, 2021) | |||
1-154929049-A-G | PMVK-related disorder | Likely benign (Nov 07, 2016) | ||
1-154929113-C-G | Inborn genetic diseases | Uncertain significance (Nov 09, 2022) | ||
1-154929156-C-A | Inborn genetic diseases | Uncertain significance (Sep 12, 2023) | ||
1-154932364-T-C | PMVK-related disorder | Benign (Jun 10, 2021) | ||
1-154932407-G-C | Inborn genetic diseases | Uncertain significance (Jul 28, 2021) | ||
1-154932703-A-G | Benign (Jun 20, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
PMVK | protein_coding | protein_coding | ENST00000368467 | 5 | 12258 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000271 | 0.550 | 125691 | 0 | 56 | 125747 | 0.000223 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.754 | 97 | 120 | 0.807 | 0.00000746 | 1235 |
Missense in Polyphen | 38 | 44.287 | 0.85803 | 468 | ||
Synonymous | 1.11 | 39 | 48.9 | 0.798 | 0.00000289 | 377 |
Loss of Function | 0.666 | 8 | 10.3 | 0.776 | 5.25e-7 | 106 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000541 | 0.000541 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000495 | 0.0000462 |
European (Non-Finnish) | 0.000270 | 0.000264 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000131 | 0.000131 |
Other | 0.000337 | 0.000326 |
dbNSFP
Source:
- Disease
- DISEASE: Porokeratosis 1, multiple types (POROK1) [MIM:175800]: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269|PubMed:26202976, ECO:0000269|PubMed:27052676}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- Mevalonate pathway;Peroxisome - Homo sapiens (human);Terpenoid backbone biosynthesis - Homo sapiens (human);Simvastatin Action Pathway;Pravastatin Action Pathway;Atorvastatin Action Pathway;Hyper-IgD syndrome;Cholesteryl ester storage disease;Lysosomal Acid Lipase Deficiency (Wolman Disease);Alendronate Action Pathway;Rosuvastatin Action Pathway;Lovastatin Action Pathway;Mevalonic aciduria;Wolman disease;Risedronate Action Pathway;Cerivastatin Action Pathway;Pamidronate Action Pathway;Fluvastatin Action Pathway;Smith-Lemli-Opitz Syndrome (SLOS);Chondrodysplasia Punctata II, X Linked Dominant (CDPX2);CHILD Syndrome;Desmosterolosis;Hypercholesterolemia;Steroid Biosynthesis;Zoledronate Action Pathway;Ibandronate Action Pathway;Cholesterol Biosynthesis;Activation of gene expression by SREBF (SREBP);Metabolism of lipids;Regulation of cholesterol biosynthesis by SREBP (SREBF);Squalene and cholesterol biosynthesis;Metabolism;superpathway of cholesterol biosynthesis;Metabolism of steroids;Steroids metabolism;Cholesterol biosynthesis;Activation of gene expression by SREBF (SREBP);mevalonate pathway;superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
(Consensus)
Recessive Scores
- pRec
- 0.159
Intolerance Scores
- loftool
- 0.772
- rvis_EVS
- 0.59
- rvis_percentile_EVS
- 82.51
Haploinsufficiency Scores
- pHI
- 0.134
- hipred
- N
- hipred_score
- 0.208
- ghis
- 0.449
Essentials
- essential_gene_CRISPR
- E
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.999
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pmvk
- Phenotype
Gene ontology
- Biological process
- cholesterol biosynthetic process;sterol biosynthetic process;phosphorylation;isopentenyl diphosphate biosynthetic process, mevalonate pathway;regulation of cholesterol biosynthetic process;response to cholesterol
- Cellular component
- peroxisome;cytosol;membrane;extracellular exosome
- Molecular function
- phosphomevalonate kinase activity;ATP binding