NOVA2
Basic information
Region (hg38): 19:45933733-45974044
Previous symbols: [ "NOVA3" ]
Links
Phenotypes
GenCC
Source:
- neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (Moderate), mode of inheritance: AD
- neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (Strong), mode of inheritance: AD
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | 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 | Craniofacial; Neurologic | 32197073 |
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (28 variants)
- Inborn genetic diseases (13 variants)
- Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (6 variants)
- NOVA2-related condition (2 variants)
- not specified (1 variants)
- Intellectual disability, severe (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the NOVA2 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 | 12 | |||||
missense | 23 | 25 | ||||
nonsense | 1 | |||||
start loss | 1 | |||||
frameshift | 5 | |||||
inframe indel | 3 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 0 | |||||
non coding ? | 1 | |||||
Total | 4 | 1 | 28 | 11 | 4 |
Variants in NOVA2
This is a list of pathogenic ClinVar variants found in the NOVA2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
19-45940131-C-T | not specified | Uncertain significance (Jan 15, 2024) | ||
19-45940168-C-T | Uncertain significance (Nov 01, 2022) | |||
19-45940184-G-T | NOVA2-related disorder | Likely benign (Apr 26, 2023) | ||
19-45940187-T-A | NOVA2-related disorder | Likely benign (Apr 26, 2023) | ||
19-45940190-A-C | NOVA2-related disorder | Likely benign (Apr 26, 2023) | ||
19-45940193-G-A | Benign (Oct 01, 2023) | |||
19-45940207-CGCCCCCTCCGCCCGCCCCGCCGCCCGCCCCG-C | NOVA2-related disorder | Likely pathogenic (Mar 03, 2023) | ||
19-45940211-C-G | NOVA2-related disorder | Likely benign (Dec 01, 2022) | ||
19-45940221-G-C | Inborn genetic diseases | Uncertain significance (Oct 06, 2021) | ||
19-45940243-C-G | Inborn genetic diseases | Uncertain significance (Sep 20, 2023) | ||
19-45940342-C-T | Inborn genetic diseases • NOVA2-related disorder | Conflicting classifications of pathogenicity (Oct 18, 2023) | ||
19-45940354-AG-A | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | Pathogenic (May 06, 2022) | ||
19-45940369-TGGC-T | NOVA2-related disorder | Likely benign (Sep 23, 2022) | ||
19-45940394-G-A | Likely benign (Jul 01, 2023) | |||
19-45940465-T-C | Inborn genetic diseases | Uncertain significance (Dec 31, 2020) | ||
19-45940467-T-G | Likely benign (Sep 01, 2021) | |||
19-45940481-T-G | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | Benign (Sep 05, 2021) | ||
19-45940515-AG-A | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | Likely pathogenic (Nov 17, 2021) | ||
19-45940559-CA-C | Intellectual disability, severe • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | Pathogenic (Sep 26, 2019) | ||
19-45940560-AC-A | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | Pathogenic (Apr 30, 2020) | ||
19-45940577-GGGGCCCAGCA-G | Pathogenic (Sep 01, 2021) | |||
19-45940581-C-G | Uncertain significance (Oct 25, 2022) | |||
19-45940593-GAGGCGGCGGCGGCCGACGCTGCGGCCGCGGCTGGCAGCAC-G | Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities | Pathogenic (Apr 30, 2020) | ||
19-45940594-A-AGGC | Uncertain significance (Nov 22, 2023) | |||
19-45940603-C-T | Inborn genetic diseases | Uncertain significance (Jun 27, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
NOVA2 | protein_coding | protein_coding | ENST00000263257 | 4 | 39813 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.983 | 0.0174 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 4.35 | 70 | 272 | 0.258 | 0.0000188 | 3065 |
Missense in Polyphen | 5 | 43.214 | 0.1157 | 377 | ||
Synonymous | 2.88 | 96 | 139 | 0.690 | 0.0000113 | 1115 |
Loss of Function | 3.25 | 0 | 12.3 | 0.00 | 6.16e-7 | 149 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May regulate RNA splicing or metabolism in a specific subset of developing neurons (By similarity). Binds single strand RNA. {ECO:0000250}.;
Intolerance Scores
- loftool
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.425
- hipred
- hipred_score
- ghis
- 0.696
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.201
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Nova2
- 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); 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);
Gene ontology
- Biological process
- mRNA splicing, via spliceosome;regulation of RNA metabolic process;negative regulation of cold-induced thermogenesis
- Cellular component
- nucleus
- Molecular function
- RNA binding