RRAS2
RAS related 2, the group of RAS type GTPase family
Basic information
Region (hg38): 11:14277922-14364506
Links
Phenotypes
GenCC
Source:
- noonan syndrome 12 (Strong), mode of inheritance: AD
- noonan syndrome 12 (Strong), mode of inheritance: AD
- Noonan syndrome (Supportive), mode of inheritance: AD
- noonan syndrome 12 (Moderate), mode of inheritance: AD
- ovarian cancer (No Known Disease Relationship), mode of inheritance: Unknown
- noonan syndrome 12 (Strong), mode of inheritance: AD
- Noonan syndrome (Definitive), mode of inheritance: AD
- noonan syndrome 12 (Definitive), mode of inheritance: AD
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Noonan syndrome 12 | AD | Cardiovascular | Surveillance and treatment related to manifestations such as cardiac anomalies (which include pulmonic stenosis and other congenital heart anomalies) can be beneficial | Cardiovascular; Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic | 31130282; 31130285 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (54 variants)
- RRAS2-related_disorder (13 variants)
- Inborn_genetic_diseases (12 variants)
- Noonan_syndrome_12 (9 variants)
- Noonan_syndrome (7 variants)
- not_specified (2 variants)
- RASopathy (1 variants)
- Ovarian_neoplasm (1 variants)
- See_cases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRAS2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000012250.6. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 14 | 15 | ||||
| missense | 37 | 48 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| Total | 4 | 5 | 39 | 15 | 1 |
Highest pathogenic variant AF is 0.0000018596002
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RRAS2 | protein_coding | protein_coding | ENST00000256196 | 6 | 86581 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.975 | 0.0253 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.78 | 59 | 112 | 0.527 | 0.00000587 | 1332 |
| Missense in Polyphen | 15 | 46.307 | 0.32393 | 552 | ||
| Synonymous | 1.07 | 30 | 38.5 | 0.780 | 0.00000186 | 364 |
| Loss of Function | 3.12 | 0 | 11.3 | 0.00 | 4.78e-7 | 141 |
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: It is a plasma membrane-associated GTP-binding protein with GTPase activity. Might transduce growth inhibitory signals across the cell membrane, exerting its effect through an effector shared with the Ras proteins but in an antagonistic fashion.;
- Disease
- DISEASE: Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:8052619}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.;
- Pathway
- Autophagy - animal - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Cellular senescence - Homo sapiens (human);MAPK Signaling Pathway;Ras Signaling;Regulation of Actin Cytoskeleton
(Consensus)
Recessive Scores
- pRec
- 0.156
Intolerance Scores
- loftool
- 0.284
- rvis_EVS
- 0.04
- rvis_percentile_EVS
- 56.25
Haploinsufficiency Scores
- pHI
- 0.848
- hipred
- Y
- hipred_score
- 0.783
- ghis
- 0.623
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.887
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rras2
- Phenotype
- immune system phenotype; vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; neoplasm; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan);
Gene ontology
- Biological process
- osteoblast differentiation;Ras protein signal transduction;positive regulation of cell migration;regulation of neuron death
- Cellular component
- endoplasmic reticulum;plasma membrane;focal adhesion;membrane;extracellular exosome
- Molecular function
- GTPase activity;protein binding;GTP binding