ClinVar Genomic variation as it relates to human health
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- Interpretation:
-
Pathogenic
- Review status:
- no assertion criteria provided
- Submissions:
- 1
- First in ClinVar:
- Feb 11, 2019
- Most recent Submission:
- Feb 11, 2019
- Last evaluated:
- Feb 6, 2019
- Accession:
- VCV000617666.1
- Variation ID:
- 617666
- Description:
- single nucleotide variant
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NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)
- Allele ID
- 609069
- Variant type
- single nucleotide variant
- Variant length
- 1 bp
- Cytogenetic location
- 19q13.33
- Genomic location
- 19: 48617362 (GRCh38) GRCh38 UCSC
- 19: 49120619 (GRCh37) GRCh37 UCSC
- HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000979.4:c.152T>C MANE Select NP_000970.1:p.Leu51Ser missense NM_001270490.2:c.65T>C NP_001257419.1:p.Leu22Ser missense NR_073022.2:n.179T>C NC_000019.10:g.48617362A>G NC_000019.9:g.49120619A>G NG_029867.1:g.3072A>G - Protein change
- L51S, L22S
- Other names
- -
- Canonical SPDI
- NC_000019.10:48617361:A:G
- Functional consequence
- -
- Global minor allele frequency (GMAF)
- -
- Allele frequency
- -
- Links
- OMIM: 604179.0001
- dbSNP: rs1568425218
- VarSome
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Aggregate interpretations per condition
| Interpreted condition | Interpretation | Number of submissions | Review status | Last evaluated | Variation/condition record |
|---|---|---|---|---|---|
| Pathogenic | 1 | no assertion criteria provided | Feb 6, 2019 | RCV000754828.1 |
Submitted interpretations and evidence
Help| Interpretation (Last evaluated) |
Review status (Assertion criteria) |
Condition (Inheritance) |
Submitter | More information | |
|---|---|---|---|---|---|
|
Pathogenic
(Feb 06, 2019)
|
no assertion criteria provided
Method: literature only
|
DIAMOND-BLACKFAN ANEMIA 18 (1 family)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000882709.1
First in ClinVar: Feb 11, 2019 Last updated: Feb 11, 2019 |
Comment on evidence:
In a father and son (family NCI-172) with Diamond-Blackfan anemia-18 (DBA18; 618310), Mirabello et al. (2017) identified a heterozygous mutation in the RPL18 gene (g.49120619T-C, … (more)
In a father and son (family NCI-172) with Diamond-Blackfan anemia-18 (DBA18; 618310), Mirabello et al. (2017) identified a heterozygous mutation in the RPL18 gene (g.49120619T-C, GRCh37) resulting in a leu51-to-ser (L51S) substitution. The mutation, which was found by whole-exome sequencing, was not found in the 1000 Genomes Project, Exome Variant Server, or ExAC databases. Analysis of pre-rRNA processing in patient cells showed an increase in the 36S subunit compared to controls, indicating a defect in pre-rRNA processing. The patients were part of a cohort of 87 families with a similar disorder who underwent genetic analysis; mutations in known DBA-associated genes were excluded in the family. (less)
|
Functional evidence
Help| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Citations for this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Novel and known ribosomal causes of Diamond-Blackfan anaemia identified through comprehensive genomic characterisation. | Mirabello L | Journal of medical genetics | 2017 | PMID: 28280134 |
Text-mined citations for rs1568425218...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Apr 25, 2022