RCC1L
Basic information
Region (hg38): 7:75027122-75074228
Previous symbols: [ "WBSCR16" ]
Links
Phenotypes
GenCC
Source:
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 RCC1L 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 | 6 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 5 | 0 | 2 |
Variants in RCC1L
This is a list of pathogenic ClinVar variants found in the RCC1L region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-75056003-G-T | not specified | Uncertain significance (Sep 27, 2021) | ||
| 7-75056083-C-A | Benign (Dec 31, 2019) | |||
| 7-75066792-G-A | not specified | Uncertain significance (Aug 12, 2021) | ||
| 7-75073440-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
| 7-75073695-G-A | Benign (Jul 01, 2023) | |||
| 7-75073709-G-A | not specified | Uncertain significance (Sep 16, 2021) | ||
| 7-75073713-C-T | not specified | Uncertain significance (Oct 12, 2021) |
GnomAD
Source:
dbNSFP
Source:
- Function
- FUNCTION: Guanine nucleotide exchange factor (GEF) for mitochondrial dynamin-related GTPase OPA1. Activates OPA1, by exchanging bound GDP for free GTP, and drives OPA1 and MFN1- dependent mitochondrial fusion (PubMed:28746876). Plays an essential role in mitochondrial ribosome biogenesis. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation of core subunits of the oxidative phosphorylation system (PubMed:27667664). {ECO:0000269|PubMed:27667664, ECO:0000269|PubMed:28746876}.;
- Disease
- DISEASE: Note=WBSCR16 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR16 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. {ECO:0000305|PubMed:12073013}.;
Recessive Scores
- pRec
- 0.0816
Haploinsufficiency Scores
- pHI
- 0.684
- hipred
- N
- hipred_score
- 0.244
- ghis
Mouse Genome Informatics
- Gene name
- Rcc1l
- Phenotype
- hematopoietic system phenotype; immune system phenotype;
Gene ontology
- Biological process
- positive regulation of mitochondrial translation;mitochondrial membrane fusion
- Cellular component
- mitochondrial inner membrane;mitochondrial membrane
- Molecular function
- RNA binding;guanyl-nucleotide exchange factor activity;protein binding;GTP binding;rRNA binding