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GeneBe

RRAS

RAS related, the group of RAS type GTPase family

Basic information

Region (hg38): 19:49635291-49640143

Links

ENSG00000126458NCBI:6237OMIM:165090HGNC:10447Uniprot:P10301AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • Noonan syndrome (Moderate), mode of inheritance: AD
  • Noonan syndrome (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RRAS gene.

  • Noonan syndrome (194 variants)
  • Inborn genetic diseases (88 variants)
  • not specified (44 variants)
  • not provided (33 variants)
  • RRAS-related condition (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRAS 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
62
clinvar
1
clinvar
63
missense
108
clinvar
3
clinvar
1
clinvar
112
nonsense
1
clinvar
1
start loss
3
clinvar
3
frameshift
3
clinvar
3
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
1
clinvar
1
splice region
11
10
21
non coding
7
clinvar
24
clinvar
11
clinvar
42
Total 0 1 123 89 13

Variants in RRAS

This is a list of pathogenic ClinVar variants found in the RRAS region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
19-49635346-G-A Uncertain significance (Feb 04, 2022)1677893
19-49635571-C-T not specified • RRAS-related condition Conflicting classifications of pathogenicity (May 28, 2023)2506325
19-49635572-T-C not specified • RRAS-related condition Benign (Apr 27, 2021)928938
19-49635581-G-A Noonan syndrome • Inborn genetic diseases Likely benign (Feb 05, 2023)1557570
19-49635584-G-C Noonan syndrome Uncertain significance (Jun 26, 2018)565489
19-49635587-C-T Noonan syndrome • Inborn genetic diseases Uncertain significance (Dec 15, 2022)1366588
19-49635588-G-A Noonan syndrome • Inborn genetic diseases • RRAS-related condition Likely benign (Jun 14, 2022)1665914
19-49635590-A-G Noonan syndrome Uncertain significance (Jul 13, 2022)2131899
19-49635591-G-A Inborn genetic diseases • Noonan syndrome Likely benign (May 17, 2022)1753472
19-49635602-C-T Noonan syndrome • not specified Uncertain significance (Dec 30, 2023)582576
19-49635603-G-A Inborn genetic diseases • Noonan syndrome • RRAS-related condition Likely benign (Oct 17, 2022)1752782
19-49635606-C-A Noonan syndrome • not specified Uncertain significance (Jan 07, 2020)849110
19-49635609-C-T Noonan syndrome Likely benign (Nov 01, 2021)1629000
19-49635610-T-C Noonan syndrome Uncertain significance (Mar 01, 2023)577262
19-49635613-C-T Inborn genetic diseases Uncertain significance (Nov 05, 2021)1752208
19-49635619-G-A Noonan syndrome • Inborn genetic diseases Uncertain significance (Jul 14, 2022)934671
19-49635620-C-T Inborn genetic diseases Likely benign (Dec 07, 2021)2382698
19-49635623-T-C Noonan syndrome Uncertain significance (Aug 05, 2022)2039752
19-49635624-G-A Noonan syndrome • RRAS-related condition Likely benign (Jul 28, 2023)2725369
19-49635633-C-T Noonan syndrome • not specified • Inborn genetic diseases • RRAS-related condition Benign/Likely benign (Nov 13, 2023)457990
19-49635634-G-A Noonan syndrome Uncertain significance (May 12, 2022)2059832
19-49635635-G-A Noonan syndrome Uncertain significance (Aug 22, 2023)1003768
19-49635648-T-C Inborn genetic diseases Likely benign (Jan 27, 2020)1750107
19-49635657-T-C Noonan syndrome Uncertain significance (Feb 11, 2023)2971617
19-49635664-T-G not specified Uncertain significance (Dec 04, 2021)1331357

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RRASprotein_codingprotein_codingENST00000246792 64910
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004660.8881256910561257470.000223
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6761101320.8340.000008571379
Missense in Polyphen3846.7680.81253487
Synonymous-0.04235958.61.010.00000420450
Loss of Function1.3759.560.5234.53e-7110

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005890.0000589
Ashkenazi Jewish0.0001020.0000992
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.0004780.000457
Middle Eastern0.000.00
South Asian0.00003310.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Regulates the organization of the actin cytoskeleton (PubMed:16537651, PubMed:18270267). With OSPBL3, modulates integrin beta-1 (ITGB1) activity (PubMed:18270267). {ECO:0000269|PubMed:16537651, ECO:0000269|PubMed:18270267}.;
Pathway
Autophagy - animal - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Axon guidance - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Rap1 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);EGFR Inhibitor Pathway, Pharmacodynamics;Bisphosphonate Pathway, Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;G Protein Signaling Pathways;MAPK Signaling Pathway;Canonical and Non-canonical Notch signaling;MAPK and NFkB Signalling Pathways Inhibited by Yersinia YopJ;T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection;MAPK Cascade;Ras Signaling;Regulation of Actin Cytoskeleton;Developmental Biology;Regulation of Ras family activation;Neuronal System;Sema4D mediated inhibition of cell attachment and migration;Sema4D in semaphorin signaling;SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion;Semaphorin interactions;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;Plexin-D1 Signaling;Axon guidance;CREB phosphorylation through the activation of Ras;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Signaling events mediated by focal adhesion kinase;EPHB forward signaling (Consensus)

Recessive Scores

pRec
0.199

Intolerance Scores

loftool
0.435
rvis_EVS
0.24
rvis_percentile_EVS
69.21

Haploinsufficiency Scores

pHI
0.193
hipred
Y
hipred_score
0.756
ghis
0.530

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.590

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Rras
Phenotype
homeostasis/metabolism 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; immune system phenotype;

Zebrafish Information Network

Gene name
rras
Affected structure
vagal ganglion
Phenotype tag
abnormal
Phenotype quality
fused with

Gene ontology

Biological process
leukocyte differentiation;Ras protein signal transduction;negative regulation of cell migration;positive regulation of angiogenesis;regulation of protein kinase B signaling;face morphogenesis;regulation of ERK1 and ERK2 cascade
Cellular component
plasma membrane;focal adhesion;extracellular exosome
Molecular function
GTPase activity;protein binding;GTP binding;GDP binding;protein-containing complex binding