RNF212B

ring finger protein 212B, the group of Ring finger proteins

Basic information

Region (hg38): 14:23185316-23273477

Previous symbols: [ "C14orf164" ]

Links

ENSG00000215277NCBI:100507650HGNC:20438Uniprot:A8MTL3AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNF212B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF212B 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
0
missense
0
nonsense
1
clinvar
1
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 1 0 0 0

Variants in RNF212B

This is a list of pathogenic ClinVar variants found in the RNF212B region.

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

Position Type Phenotype Significance ClinVar
14-23262678-C-T Female infertility Likely pathogenic (Mar 20, 2024)3062225

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RNF212Bprotein_codingprotein_codingENST00000399910 1488162
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.06e-80.53800000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.59811330.6110.000006431930
Missense in Polyphen1027.8030.35968440
Synonymous2.222746.20.5840.00000215556
Loss of Function1.081520.30.7400.00000105270

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Mouse Genome Informatics

Gene name
Rnf212b
Phenotype

Gene ontology

Biological process
synapsis;protein sumoylation
Cellular component
synaptonemal complex
Molecular function
SUMO transferase activity;metal ion binding